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Research Article
31 May 2023

Amniotic fluid karyotype analysis and prenatal diagnosis strategy of 3117 pregnant women with amniocentesis indication

Abstract

Aim: To examine prenatal diagnosis strategies through fetal karyotype analysis for 3117 pregnant women with genetic amniocentesis indications. Materials & methods: According to the different indications for amniocentesis, the study was divided into 8 groups. The number of amniocentesis specimens, the number of abnormal karyotypes and the positive rate of each group were analyzed. Results: Compared with prenatal serum screening, noninvasive prenatal DNA testing is more accurate and can effectively improve screening efficiency. Multiple prenatal diagnosis indicators (37.349%) were more likely to be detected than single prenatal diagnosis indicators (11.091%). Conclusion: None of the screening methods can completely replace amniocentesis, and for pregnant women with genetic indications for amniocentesis, amniocentesis is strongly recommended.

Tweetable abstract

No alternative screening methods can completely replace amniocentesis, and for pregnant women with genetic indications for amniocentesis, amniocentesis is strongly recommended.

Plain language summary

What is this article about?

This article discusses prenatal diagnosis strategies through fetal karyotype analysis for 3117 pregnant women with genetic amniocentesis indications.

What were the results?

None of the screening methods can completely replace amniocentesis, and for pregnant women with genetic indications for amniocentesis, amniocentesis is strongly recommended.

What do the results of the study mean?

Amniocentesis combined with karyotype analysis has long been the gold standard for the diagnosis of fetal chromosomal disorders.

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References

Papers of special note have been highlighted as: •• of considerable interest
1.
Riis P, Fuchs F. Antenatal determination of fetal sex: in prevention of hereditary diseases. Lancet 276(7143), 180–182 (1960).
2.
Steele MW. Chromosome analysis of human amniotic-fluid cells. Lancet 1(7434), 383–385 (1966).
3.
Nelson MM, Henderson HE, Petersen EM et al. Antenatal diagnosis in practice. S. Afr. Med. J. 54(8), 305–309 (1978).
4.
Dallaire L. Integration of prenatal diagnosis of genetic diseases into medical practice. Can. Med. Assoc. J. 115(8), 713–714 (1976).
5.
Bakharev VA, Karetnikova NA, Iantovskiĭ IuR. Nekotorye akusherskie aspekty amniotsenteza i biopsii khoriona[The obstetrical aspects of amniocentesis and chorionic biopsy]. Akush Ginekol (Mosk). 12(12), 44–46 (1989).
6.
Lo YM, Corbetta N, Chamberlain PF et al. Presence of fetal DNA in maternal plasma and serum. Lancet 350(9076), 485–487 (1997).
7.
Zhou JQ, Lu YM. Detection of free fetal nucleic acid in maternal plasma and its significance. Chinese J. Clin. Lab. Sci. 4(3), 97–99 (2003).
•• Lu Yuming, as the founder of NIPT technology, laid the cornerstone for the study of free fetal nucleic acid in maternal plasma.
8.
Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol. 206(4), 319.e1–319.e9 (2012).
9.
Chiu RW, Akolekar R, Zheng YW et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 342(1), 217 (2011).
10.
Norton ME, Wapner RJ et al. Cell-free DNA analysis for noninvasive examination of trisomy. N. Engl. J. Med. 373(26), 2582 (2015).
11.
Lau TK, Cheung SW, Lo PSS et al. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet. Gynecol. 43(3), 254–264 (2014).
12.
McGowan-Jordan J, Hastings RJ, Moore S (Eds). ISCN 2020: An International System for Human Cytogenomic Nomenclature. Karger, Basel, Switzerland (2020).
•• The latest guide to karyotype analysis.
13.
Syngelaki A, Guerra L, Ceccacci I, Efeturk T, Nicolaides KH. Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities. Ultrasound Obstet. Gynecol. 50(1), 45–48 (2017).
14.
Whitworth M, Bricker L, Mullan C. Ultrasound for fetal assessment in early pregnancy. Cochrane Database Syst. Rev. 2015(7), CD007058 (2015).
15.
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet. Gynecol. 50(3), 302–314 (2017).
16.
Zhou Q, Zhu ZP, Zhang B, Yu B, Cai ZM, Yuan P. Clinical features and pregnancy outcomes of women with abnormal cell-free fetal DNA test results. Ann. Transl. Med. 7(14), 317 (2019).
17.
Liehr T, Lauten A, Schneider U. Sc. Hub. 2(1), 1–11 (2017).
18.
Liehr T. False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on >750,000 tests? Mol. Cytogenet. 15(1), 36 (2022).
19.
Wu X, Huang H, Chen X et al. Impact of confined placental mosaicism on non-invasive prenatal testing and pregnancy outcomes. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 38(4), 335–338 (2021).
20.
Tseng JJ, Chou MM, Lo FC et al. Detection of chromosome aberrations in the second trimester using genetic amniocentesis: experience during 1995–2004. Taiwan J. Obstet. Gynecol. 45(1), 39–41 (2006).
21.
Karaoguz MY, Bal F, Yakut T et al. Cytogenetic results of amniocentesis materials: incidence of abnormal karyotypes in the Turkish collaborative study. Genet. Couns. 17(2), 219–230 (2006).
22.
Ocak Z, Özlü T, Yazıcıoğlu HF, Özyurt O, Aygün M. Clinical and cytogenetic results of a large series of amniocentesis cases from Turkey: report of 6124 cases. J. Obstet. Gynaecol. Res. 40(1), 139–146 (2014).
23.
Zhang Y, Wu J, Li X et al. Karyotype analysis of amniotic fluid cells and comparison of chromosomal abnormality rate during second trimester. Zhonghua Fu Chan Ke Za Zhi. 46(9), 644–648 (2011).