Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot Study Article Swipe
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.18585/inabj.v17i4.3753
BACKGROUND: Identification of cell-free foetal DNA (cffDNA) in maternal blood, combined with next-generation sequencing (NGS) advancement, has paved the way for non-invasive prenatal screening to detect foetal aneuploidies. However, there is limited evidence on its diagnostic accuracy when compared with gold-standard invasive tests specifically in pregnancies complicated by birth defects in Indonesia. This study was conducted to evaluate the precision of non-invasive prenatal testing (NIPT) using NGS and ultrasound findings compared with the established benchmarks of amniocentesis and neonatal karyotyping through G-banding analysis, which is an invasive procedures, in a private laboratory setting for pregnancies with birth defect.METHODS: An observational cohort study involving pregnant women with foetal birth defects in central nervous system, facial, heart, gastrointestinal tract, urinary tract abnormalities and suspected Down Syndrome was conducted. The foetal birth defects were identified in the first trimester with ultrasound screening. Venous blood was drawn from the mother for NGS-based NIPT examination. As a gold standard, amniocentesis or neonatal G-banding karyotyping was conducted.RESULTS: Using G-banding karyotyping as gold standard, the results indicated that NIPT using the NGS method and ultrasound findings achieved 100% sensitivity, 100% specificity, and 100% accuracy in detecting trisomy 13, 18, and 21, as well as foetal sex chromosome abnormalities. Additionally, a case of tetrasomy 9p was identified through G-banding karyotyping, which was associated with multiple clinical abnormalities.CONCLUSION: NIPT with NGS methods and ultrasound findings demonstrated 100% accuracy for the screening of trisomy 13, 18, and 21 in birth defect pregnancy, which is comparable with G-banding analysis as a gold standard. Therefore, this suggest that these approaches offer a safe early detection, highly accurate alternative in high risk setting, compared to invasive procedure in Indonesia where access to such testing may be limited. KEYWORDS: G-banding karyotyping, next generation sequencing, non-invasive prenatal testing
Related Topics
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.18585/inabj.v17i4.3753
- https://inabj.org/index.php/ibj/article/download/3753/793
- OA Status
- gold
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4413485856
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4413485856Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.18585/inabj.v17i4.3753Digital Object Identifier
- Title
-
Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot StudyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-08-25Full publication date if available
- Authors
-
Anom Suardika, Anak Agung Ngurah Jaya Kusuma, Ni Gusti Ayu Manik Ermayanti, Endang Sri Widiyanti, I Gusti Ngurah Agung Satria Wibawa, Divika Silvana, Anak Agung Gede Raka Budayasa, Ni Nyoman Ayu Dewi, I Made Jawi, H. Sunny Sun, Yen‐An TangList of authors in order
- Landing page
-
https://doi.org/10.18585/inabj.v17i4.3753Publisher landing page
- PDF URL
-
https://inabj.org/index.php/ibj/article/download/3753/793Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://inabj.org/index.php/ibj/article/download/3753/793Direct OA link when available
- Concepts
-
Obstetrics, Medicine, Pregnancy, Prenatal screening, Prenatal diagnosis, Biology, Fetus, GeneticsTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4413485856 |
|---|---|
| doi | https://doi.org/10.18585/inabj.v17i4.3753 |
| ids.doi | https://doi.org/10.18585/inabj.v17i4.3753 |
| ids.openalex | https://openalex.org/W4413485856 |
| fwci | 0.0 |
| type | article |
| title | Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot Study |
| biblio.issue | 4 |
| biblio.volume | 17 |
| biblio.last_page | 15 |
| biblio.first_page | 407 |
| topics[0].id | https://openalex.org/T10978 |
| topics[0].field.id | https://openalex.org/fields/27 |
| topics[0].field.display_name | Medicine |
| topics[0].score | 0.9958000183105469 |
| topics[0].domain.id | https://openalex.org/domains/4 |
| topics[0].domain.display_name | Health Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/2735 |
| topics[0].subfield.display_name | Pediatrics, Perinatology and Child Health |
| topics[0].display_name | Prenatal Screening and Diagnostics |
| topics[1].id | https://openalex.org/T11213 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9072999954223633 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1311 |
| topics[1].subfield.display_name | Genetics |
| topics[1].display_name | Genomic variations and chromosomal abnormalities |
| is_xpac | False |
| apc_list.value | 200 |
| apc_list.currency | USD |
| apc_list.value_usd | 200 |
| apc_paid.value | 200 |
| apc_paid.currency | USD |
| apc_paid.value_usd | 200 |
| concepts[0].id | https://openalex.org/C131872663 |
| concepts[0].level | 1 |
| concepts[0].score | 0.6029189825057983 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q5284418 |
| concepts[0].display_name | Obstetrics |
| concepts[1].id | https://openalex.org/C71924100 |
| concepts[1].level | 0 |
| concepts[1].score | 0.5118719935417175 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[1].display_name | Medicine |
| concepts[2].id | https://openalex.org/C2779234561 |
| concepts[2].level | 2 |
| concepts[2].score | 0.49440693855285645 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q11995 |
| concepts[2].display_name | Pregnancy |
| concepts[3].id | https://openalex.org/C2992422692 |
| concepts[3].level | 5 |
| concepts[3].score | 0.4571208655834198 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q1136569 |
| concepts[3].display_name | Prenatal screening |
| concepts[4].id | https://openalex.org/C2778258057 |
| concepts[4].level | 4 |
| concepts[4].score | 0.3513258695602417 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q1136569 |
| concepts[4].display_name | Prenatal diagnosis |
| concepts[5].id | https://openalex.org/C86803240 |
| concepts[5].level | 0 |
| concepts[5].score | 0.23767146468162537 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[5].display_name | Biology |
| concepts[6].id | https://openalex.org/C172680121 |
| concepts[6].level | 3 |
| concepts[6].score | 0.21770209074020386 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q26513 |
| concepts[6].display_name | Fetus |
| concepts[7].id | https://openalex.org/C54355233 |
| concepts[7].level | 1 |
| concepts[7].score | 0.15305393934249878 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[7].display_name | Genetics |
| keywords[0].id | https://openalex.org/keywords/obstetrics |
| keywords[0].score | 0.6029189825057983 |
| keywords[0].display_name | Obstetrics |
| keywords[1].id | https://openalex.org/keywords/medicine |
| keywords[1].score | 0.5118719935417175 |
| keywords[1].display_name | Medicine |
| keywords[2].id | https://openalex.org/keywords/pregnancy |
| keywords[2].score | 0.49440693855285645 |
| keywords[2].display_name | Pregnancy |
| keywords[3].id | https://openalex.org/keywords/prenatal-screening |
| keywords[3].score | 0.4571208655834198 |
| keywords[3].display_name | Prenatal screening |
| keywords[4].id | https://openalex.org/keywords/prenatal-diagnosis |
| keywords[4].score | 0.3513258695602417 |
| keywords[4].display_name | Prenatal diagnosis |
| keywords[5].id | https://openalex.org/keywords/biology |
| keywords[5].score | 0.23767146468162537 |
| keywords[5].display_name | Biology |
| keywords[6].id | https://openalex.org/keywords/fetus |
| keywords[6].score | 0.21770209074020386 |
| keywords[6].display_name | Fetus |
| keywords[7].id | https://openalex.org/keywords/genetics |
| keywords[7].score | 0.15305393934249878 |
| keywords[7].display_name | Genetics |
| language | en |
| locations[0].id | doi:10.18585/inabj.v17i4.3753 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S2764892910 |
| locations[0].source.issn | 2085-3297, 2355-9179 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | True |
| locations[0].source.issn_l | 2085-3297 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | True |
| locations[0].source.display_name | The Indonesian Biomedical Journal |
| locations[0].source.host_organization | https://openalex.org/P4310315153 |
| locations[0].source.host_organization_name | Secretariat of The Indonesian Biomedical Journal |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310315153 |
| locations[0].source.host_organization_lineage_names | Secretariat of The Indonesian Biomedical Journal |
| locations[0].license | cc-by-nc |
| locations[0].pdf_url | https://inabj.org/index.php/ibj/article/download/3753/793 |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | https://openalex.org/licenses/cc-by-nc |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | The Indonesian Biomedical Journal |
| locations[0].landing_page_url | https://doi.org/10.18585/inabj.v17i4.3753 |
| locations[1].id | pmh:oai:doaj.org/article:63ba9866dead4473a8febe2a147a85da |
| locations[1].is_oa | False |
| locations[1].source.id | https://openalex.org/S4306401280 |
| locations[1].source.issn | |
| locations[1].source.type | repository |
| locations[1].source.is_oa | False |
| locations[1].source.issn_l | |
| locations[1].source.is_core | False |
| locations[1].source.is_in_doaj | False |
| locations[1].source.display_name | DOAJ (DOAJ: Directory of Open Access Journals) |
| locations[1].source.host_organization | |
| locations[1].source.host_organization_name | |
| locations[1].license | |
| locations[1].pdf_url | |
| locations[1].version | submittedVersion |
| locations[1].raw_type | article |
| locations[1].license_id | |
| locations[1].is_accepted | False |
| locations[1].is_published | False |
| locations[1].raw_source_name | Indonesian Biomedical Journal, Vol 17, Iss 4, Pp 407-15 (2025) |
| locations[1].landing_page_url | https://doaj.org/article/63ba9866dead4473a8febe2a147a85da |
| indexed_in | crossref, doaj |
| authorships[0].author.id | https://openalex.org/A5117221504 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-6327-9331 |
| authorships[0].author.display_name | Anom Suardika |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Anom Suardika |
| authorships[0].is_corresponding | False |
| authorships[1].author.id | https://openalex.org/A5116243434 |
| authorships[1].author.orcid | |
| authorships[1].author.display_name | Anak Agung Ngurah Jaya Kusuma |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Anak Agung Ngurah Jaya Kusuma |
| authorships[1].is_corresponding | False |
| authorships[2].author.id | https://openalex.org/A5119409491 |
| authorships[2].author.orcid | |
| authorships[2].author.display_name | Ni Gusti Ayu Manik Ermayanti |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Ni Gusti Ayu Manik Ermayanti |
| authorships[2].is_corresponding | False |
| authorships[3].author.id | https://openalex.org/A5074968309 |
| authorships[3].author.orcid | https://orcid.org/0000-0002-1887-0456 |
| authorships[3].author.display_name | Endang Sri Widiyanti |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Endang Sri Widiyanti |
| authorships[3].is_corresponding | False |
| authorships[4].author.id | https://openalex.org/A5111304159 |
| authorships[4].author.orcid | |
| authorships[4].author.display_name | I Gusti Ngurah Agung Satria Wibawa |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | I Gusti Ngurah Agung Satria Wibawa |
| authorships[4].is_corresponding | False |
| authorships[5].author.id | https://openalex.org/A5119409492 |
| authorships[5].author.orcid | |
| authorships[5].author.display_name | Divika Silvana |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Divika Silvana |
| authorships[5].is_corresponding | False |
| authorships[6].author.id | https://openalex.org/A5059627638 |
| authorships[6].author.orcid | https://orcid.org/0000-0002-8036-8256 |
| authorships[6].author.display_name | Anak Agung Gede Raka Budayasa |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Anak Agung Gede Raka Budayasa |
| authorships[6].is_corresponding | False |
| authorships[7].author.id | https://openalex.org/A5061815507 |
| authorships[7].author.orcid | |
| authorships[7].author.display_name | Ni Nyoman Ayu Dewi |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Ni Nyoman Ayu Dewi |
| authorships[7].is_corresponding | False |
| authorships[8].author.id | https://openalex.org/A5027666322 |
| authorships[8].author.orcid | https://orcid.org/0000-0003-3212-262X |
| authorships[8].author.display_name | I Made Jawi |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | I Made Jawi |
| authorships[8].is_corresponding | False |
| authorships[9].author.id | https://openalex.org/A5100700656 |
| authorships[9].author.orcid | https://orcid.org/0000-0002-3661-4448 |
| authorships[9].author.display_name | H. Sunny Sun |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | H. Sunny Sun |
| authorships[9].is_corresponding | False |
| authorships[10].author.id | https://openalex.org/A5060610988 |
| authorships[10].author.orcid | https://orcid.org/0000-0001-7629-5480 |
| authorships[10].author.display_name | Yen‐An Tang |
| authorships[10].author_position | last |
| authorships[10].raw_author_name | Yen-An Tang |
| authorships[10].is_corresponding | False |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://inabj.org/index.php/ibj/article/download/3753/793 |
| open_access.oa_status | gold |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot Study |
| has_fulltext | False |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T10978 |
| primary_topic.field.id | https://openalex.org/fields/27 |
| primary_topic.field.display_name | Medicine |
| primary_topic.score | 0.9958000183105469 |
| primary_topic.domain.id | https://openalex.org/domains/4 |
| primary_topic.domain.display_name | Health Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/2735 |
| primary_topic.subfield.display_name | Pediatrics, Perinatology and Child Health |
| primary_topic.display_name | Prenatal Screening and Diagnostics |
| related_works | https://openalex.org/W2401739700, https://openalex.org/W2097955834, https://openalex.org/W2068691653, https://openalex.org/W2397291539, https://openalex.org/W1543318016, https://openalex.org/W2417224550, https://openalex.org/W2039676378, https://openalex.org/W2352940911, https://openalex.org/W2507580912, https://openalex.org/W4381105991 |
| cited_by_count | 0 |
| locations_count | 2 |
| best_oa_location.id | doi:10.18585/inabj.v17i4.3753 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S2764892910 |
| best_oa_location.source.issn | 2085-3297, 2355-9179 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | True |
| best_oa_location.source.issn_l | 2085-3297 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | True |
| best_oa_location.source.display_name | The Indonesian Biomedical Journal |
| best_oa_location.source.host_organization | https://openalex.org/P4310315153 |
| best_oa_location.source.host_organization_name | Secretariat of The Indonesian Biomedical Journal |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310315153 |
| best_oa_location.source.host_organization_lineage_names | Secretariat of The Indonesian Biomedical Journal |
| best_oa_location.license | cc-by-nc |
| best_oa_location.pdf_url | https://inabj.org/index.php/ibj/article/download/3753/793 |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by-nc |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | The Indonesian Biomedical Journal |
| best_oa_location.landing_page_url | https://doi.org/10.18585/inabj.v17i4.3753 |
| primary_location.id | doi:10.18585/inabj.v17i4.3753 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S2764892910 |
| primary_location.source.issn | 2085-3297, 2355-9179 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | True |
| primary_location.source.issn_l | 2085-3297 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | True |
| primary_location.source.display_name | The Indonesian Biomedical Journal |
| primary_location.source.host_organization | https://openalex.org/P4310315153 |
| primary_location.source.host_organization_name | Secretariat of The Indonesian Biomedical Journal |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310315153 |
| primary_location.source.host_organization_lineage_names | Secretariat of The Indonesian Biomedical Journal |
| primary_location.license | cc-by-nc |
| primary_location.pdf_url | https://inabj.org/index.php/ibj/article/download/3753/793 |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by-nc |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | The Indonesian Biomedical Journal |
| primary_location.landing_page_url | https://doi.org/10.18585/inabj.v17i4.3753 |
| publication_date | 2025-08-25 |
| publication_year | 2025 |
| referenced_works_count | 0 |
| abstract_inverted_index.a | 89, 151, 202, 249, 259 |
| abstract_inverted_index.21 | 237 |
| abstract_inverted_index.9p | 206 |
| abstract_inverted_index.An | 98 |
| abstract_inverted_index.As | 150 |
| abstract_inverted_index.an | 85 |
| abstract_inverted_index.as | 164, 194, 196, 248 |
| abstract_inverted_index.be | 282 |
| abstract_inverted_index.by | 47 |
| abstract_inverted_index.in | 7, 44, 50, 88, 109, 132, 187, 238, 266, 274 |
| abstract_inverted_index.is | 30, 84, 243 |
| abstract_inverted_index.of | 2, 60, 75, 204, 232 |
| abstract_inverted_index.on | 33 |
| abstract_inverted_index.or | 155 |
| abstract_inverted_index.to | 24, 56, 271, 278 |
| abstract_inverted_index.13, | 190, 234 |
| abstract_inverted_index.18, | 191, 235 |
| abstract_inverted_index.21, | 193 |
| abstract_inverted_index.DNA | 5 |
| abstract_inverted_index.NGS | 66, 174, 221 |
| abstract_inverted_index.The | 126 |
| abstract_inverted_index.and | 67, 77, 120, 176, 184, 192, 223, 236 |
| abstract_inverted_index.for | 20, 93, 146, 229 |
| abstract_inverted_index.has | 16 |
| abstract_inverted_index.its | 34 |
| abstract_inverted_index.may | 281 |
| abstract_inverted_index.sex | 198 |
| abstract_inverted_index.the | 18, 58, 72, 133, 144, 167, 173, 230 |
| abstract_inverted_index.was | 54, 124, 141, 159, 207, 213 |
| abstract_inverted_index.way | 19 |
| abstract_inverted_index.100% | 180, 182, 185, 227 |
| abstract_inverted_index.Down | 122 |
| abstract_inverted_index.NIPT | 148, 171, 219 |
| abstract_inverted_index.This | 52 |
| abstract_inverted_index.case | 203 |
| abstract_inverted_index.from | 143 |
| abstract_inverted_index.gold | 152, 165, 250 |
| abstract_inverted_index.high | 267 |
| abstract_inverted_index.next | 287 |
| abstract_inverted_index.risk | 268 |
| abstract_inverted_index.safe | 260 |
| abstract_inverted_index.such | 279 |
| abstract_inverted_index.that | 170, 255 |
| abstract_inverted_index.this | 253 |
| abstract_inverted_index.well | 195 |
| abstract_inverted_index.were | 130 |
| abstract_inverted_index.when | 37 |
| abstract_inverted_index.with | 11, 39, 71, 95, 105, 136, 215, 220, 245 |
| abstract_inverted_index.(NGS) | 14 |
| abstract_inverted_index.Using | 161 |
| abstract_inverted_index.birth | 48, 96, 107, 128, 239 |
| abstract_inverted_index.blood | 140 |
| abstract_inverted_index.drawn | 142 |
| abstract_inverted_index.early | 261 |
| abstract_inverted_index.first | 134 |
| abstract_inverted_index.offer | 258 |
| abstract_inverted_index.paved | 17 |
| abstract_inverted_index.study | 53, 101 |
| abstract_inverted_index.tests | 42 |
| abstract_inverted_index.there | 29 |
| abstract_inverted_index.these | 256 |
| abstract_inverted_index.tract | 118 |
| abstract_inverted_index.using | 65, 172 |
| abstract_inverted_index.where | 276 |
| abstract_inverted_index.which | 83, 212, 242 |
| abstract_inverted_index.women | 104 |
| abstract_inverted_index.(NIPT) | 64 |
| abstract_inverted_index.Venous | 139 |
| abstract_inverted_index.access | 277 |
| abstract_inverted_index.blood, | 9 |
| abstract_inverted_index.cohort | 100 |
| abstract_inverted_index.defect | 240 |
| abstract_inverted_index.detect | 25 |
| abstract_inverted_index.foetal | 4, 26, 106, 127, 197 |
| abstract_inverted_index.heart, | 114 |
| abstract_inverted_index.highly | 263 |
| abstract_inverted_index.method | 175 |
| abstract_inverted_index.mother | 145 |
| abstract_inverted_index.tract, | 116 |
| abstract_inverted_index.central | 110 |
| abstract_inverted_index.defects | 49, 108, 129 |
| abstract_inverted_index.facial, | 113 |
| abstract_inverted_index.limited | 31 |
| abstract_inverted_index.methods | 222 |
| abstract_inverted_index.nervous | 111 |
| abstract_inverted_index.private | 90 |
| abstract_inverted_index.results | 168 |
| abstract_inverted_index.setting | 92 |
| abstract_inverted_index.suggest | 254 |
| abstract_inverted_index.system, | 112 |
| abstract_inverted_index.testing | 63, 280, 292 |
| abstract_inverted_index.through | 80, 209 |
| abstract_inverted_index.trisomy | 189, 233 |
| abstract_inverted_index.urinary | 117 |
| abstract_inverted_index.(cffDNA) | 6 |
| abstract_inverted_index.However, | 28 |
| abstract_inverted_index.Syndrome | 123 |
| abstract_inverted_index.accuracy | 36, 186, 228 |
| abstract_inverted_index.accurate | 264 |
| abstract_inverted_index.achieved | 179 |
| abstract_inverted_index.analysis | 247 |
| abstract_inverted_index.clinical | 217 |
| abstract_inverted_index.combined | 10 |
| abstract_inverted_index.compared | 38, 70, 270 |
| abstract_inverted_index.evaluate | 57 |
| abstract_inverted_index.evidence | 32 |
| abstract_inverted_index.findings | 69, 178, 225 |
| abstract_inverted_index.invasive | 41, 86, 272 |
| abstract_inverted_index.limited. | 283 |
| abstract_inverted_index.maternal | 8 |
| abstract_inverted_index.multiple | 216 |
| abstract_inverted_index.neonatal | 78, 156 |
| abstract_inverted_index.pregnant | 103 |
| abstract_inverted_index.prenatal | 22, 62, 291 |
| abstract_inverted_index.setting, | 269 |
| abstract_inverted_index.G-banding | 81, 157, 162, 210, 246, 285 |
| abstract_inverted_index.Indonesia | 275 |
| abstract_inverted_index.KEYWORDS: | 284 |
| abstract_inverted_index.NGS-based | 147 |
| abstract_inverted_index.analysis, | 82 |
| abstract_inverted_index.cell-free | 3 |
| abstract_inverted_index.conducted | 55 |
| abstract_inverted_index.detecting | 188 |
| abstract_inverted_index.indicated | 169 |
| abstract_inverted_index.involving | 102 |
| abstract_inverted_index.precision | 59 |
| abstract_inverted_index.procedure | 273 |
| abstract_inverted_index.screening | 23, 231 |
| abstract_inverted_index.standard, | 153, 166 |
| abstract_inverted_index.standard. | 251 |
| abstract_inverted_index.suspected | 121 |
| abstract_inverted_index.tetrasomy | 205 |
| abstract_inverted_index.trimester | 135 |
| abstract_inverted_index.Indonesia. | 51 |
| abstract_inverted_index.Therefore, | 252 |
| abstract_inverted_index.approaches | 257 |
| abstract_inverted_index.associated | 214 |
| abstract_inverted_index.benchmarks | 74 |
| abstract_inverted_index.chromosome | 199 |
| abstract_inverted_index.comparable | 244 |
| abstract_inverted_index.conducted. | 125 |
| abstract_inverted_index.detection, | 262 |
| abstract_inverted_index.diagnostic | 35 |
| abstract_inverted_index.generation | 288 |
| abstract_inverted_index.identified | 131, 208 |
| abstract_inverted_index.laboratory | 91 |
| abstract_inverted_index.pregnancy, | 241 |
| abstract_inverted_index.screening. | 138 |
| abstract_inverted_index.sequencing | 13 |
| abstract_inverted_index.ultrasound | 68, 137, 177, 224 |
| abstract_inverted_index.BACKGROUND: | 0 |
| abstract_inverted_index.alternative | 265 |
| abstract_inverted_index.complicated | 46 |
| abstract_inverted_index.established | 73 |
| abstract_inverted_index.karyotyping | 79, 158, 163 |
| abstract_inverted_index.pregnancies | 45, 94 |
| abstract_inverted_index.procedures, | 87 |
| abstract_inverted_index.sequencing, | 289 |
| abstract_inverted_index.advancement, | 15 |
| abstract_inverted_index.demonstrated | 226 |
| abstract_inverted_index.examination. | 149 |
| abstract_inverted_index.karyotyping, | 211, 286 |
| abstract_inverted_index.non-invasive | 21, 61, 290 |
| abstract_inverted_index.sensitivity, | 181 |
| abstract_inverted_index.specifically | 43 |
| abstract_inverted_index.specificity, | 183 |
| abstract_inverted_index.Additionally, | 201 |
| abstract_inverted_index.abnormalities | 119 |
| abstract_inverted_index.amniocentesis | 76, 154 |
| abstract_inverted_index.aneuploidies. | 27 |
| abstract_inverted_index.gold-standard | 40 |
| abstract_inverted_index.observational | 99 |
| abstract_inverted_index.Identification | 1 |
| abstract_inverted_index.abnormalities. | 200 |
| abstract_inverted_index.defect.METHODS: | 97 |
| abstract_inverted_index.next-generation | 12 |
| abstract_inverted_index.gastrointestinal | 115 |
| abstract_inverted_index.conducted.RESULTS: | 160 |
| abstract_inverted_index.abnormalities.CONCLUSION: | 218 |
| cited_by_percentile_year | |
| countries_distinct_count | 0 |
| institutions_distinct_count | 11 |
| citation_normalized_percentile.value | 0.41410826 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |