Genetic tests that can be performed during pregnancy are used to investigate various genetic conditions and abnormalities in the fetus. These tests are intended to assess genetic risk and provide information to help parents make appropriate preparations and decisions. Below is a list of common genetic tests available during pregnancy:

NIPT (Non-Invasive Prenatal Testing).

It is possible from early pregnancy and involves analyzing foetal DNA fragments from the mother’s blood for chromosomal abnormalities such as Down syndrome (21 trisomy’s), Edwards syndrome (18 trisomy’s) and Pato’s syndrome (13 trisomy’s).

Amniotic fluid testing:.

A test performed in mid-pregnancy (from 15 weeks onwards), which uses foetal cells obtained from amniotic fluid to test for chromosomal abnormalities, genetic disorders or certain other conditions. It is invasive and carries certain risks (e.g. miscarriage).

Chorionic villus screening (CVS):.

This test is performed between 6 and 12 weeks’ gestation and involves collecting chorionic tissue from the placenta to look for chromosomal abnormalities and genetic disorders.It can be performed earlier than amniotic fluid testing, but is also invasive and carries risks.

NIPPT (Non-Invasive Paternal Testing Before Birth).

The test allows the identity of the father to be tested at the foetal stage by comparing the mother’s blood with the pseudo-father’s DNA. There is no risk and the accuracy is over 99.99%.

Fetal DNA analysis:.

This test, which is rarely performed, is designed to provide more detailed information on specific genetic abnormalities. This test is usually considered when there is an increased risk of certain genetic diseases.

These genetic tests should be selected based on the risks, benefits and individual needs. Before undergoing testing, it is important to discuss in detail with a genetic counsellor or health care provider to determine which test is best for you. This will ensure that you have a good understanding of the implications of the test results and possible genetic problems to deal with.

医師監修監修日：2024年9月8日

岡博史（おかひろし）

医師・医学博士／ヒロクリニック統括院長

YouTubeチャンネルなどを通じて、遺伝子やNIPT（新型出生前診断）についてわかりやすく発信しています。

略歴

1996年慶應義塾大学医学部卒業
2004年慶應義塾大学医学博士号取得
2005年慶應義塾大学皮膚科学教室助手
2008年ヒロ皮フ形成クリニック開業
2009年医療法人社団福美会理事長
2015年医療法人社団福美会理事

資格・所属

CAPラボディレクター
日本皮膚科学会皮膚科専門医
日本医師会産業医
東京衛生検査所指導監督医

発信・関連リンク

この記事は、ヒロクリニックNIPPTの編集・監修体制にもとづき、資格を持つ医師が内容を確認しています。

医師監修監修日：2024年9月8日

堤修一（つつみしゅういち）

医師・医学博士／ヒロクリニック博多駅前院院長

略歴

1993年東京大学医学部医学科卒業
2016〜2019年東京大学先端科学技術研究センター准教授

発信・関連リンク

プロフィール詳細

この記事は、ヒロクリニックNIPPTの編集・監修体制にもとづき、資格を持つ医師が内容を確認しています。

参考文献

Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Evaluation of cell-free DNA in maternal blood for detection of fetal trisomies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017;50(3):302-314.
Norton ME, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372(17):1589-1597.
Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Obstet Gynecol. 2012;119(5):890-901.
Wapner RJ, Babiarz JE, Levy B, Stosic M, Banjevic M, Curnow KJ, et al. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol. 2015;212(3):332.e1-9.
Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;45(1):16-26.
Wald NJ, Kennard A, Hackshaw A, McGuire A. Antenatal screening for Down's syndrome. J Med Screen. 1997;4(4):181-246.