High sensitivity and specificity in fetal gender identification in the first trimester, using ultrasound and Noninvasive Prenatal Screening (NIPS) in twin pregnancies, a prospective study

Abstract Introduction Determination of the fetal gender in the first trimester is important in twin pregnancy cases of familial X-linked genetic syndromes and helps determine chorionicity. We assessed and compared the accuracy of first-trimester ultrasound scans, and cell-free fetal DNA (CfDNA) in d...

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Main Authors: Ran Svirsky, Adi Sharabi-Nov, Tal Sagi, Hamutal Meiri, Orenstein Adi, Nadav Kugler, Ron Maymon
Format: Article
Language:English
Published: BMC 2023-11-01
Series:BMC Pregnancy and Childbirth
Subjects:
Online Access:https://doi.org/10.1186/s12884-023-06133-z
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author Ran Svirsky
Adi Sharabi-Nov
Tal Sagi
Hamutal Meiri
Orenstein Adi
Nadav Kugler
Ron Maymon
author_facet Ran Svirsky
Adi Sharabi-Nov
Tal Sagi
Hamutal Meiri
Orenstein Adi
Nadav Kugler
Ron Maymon
author_sort Ran Svirsky
collection DOAJ
description Abstract Introduction Determination of the fetal gender in the first trimester is important in twin pregnancy cases of familial X-linked genetic syndromes and helps determine chorionicity. We assessed and compared the accuracy of first-trimester ultrasound scans, and cell-free fetal DNA (CfDNA) in determining fetal gender in the first trimester of twin pregnancies. Methods Women with twin pregnancies were recruited prospectively during the first trimester. Fetal gender was determined using both ultrasound scans and CfDNA screening. Both results were compared to the newborn gender after delivery. Results A total of 113 women with twin pregnancies were enrolled. There was 100% sensitivity and specificity in Y chromosome detection using CfDNA. Gender assignment using ultrasound in any first-trimester scans was 79.7%. Accuracy level increased from 54.2% in CRL 45-54 mm to 87.7% in CRL 55-67 mm and 91.5% in CRL 67-87 mm. Male fetuses had significantly higher chances of a gender assignment error compared to female fetuses, odds ratio = 23.574 (CI 7.346 - 75.656). Conclusions CfDNA is highly sensitive and specific in determining the presence of the Y chromosome in twin pregnancies in the first trimester. Between CRL 55-87 mm, ultrasound scanning offers a highly accurate determination of fetal gender in twin pregnancies.
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spelling doaj.art-6e74cf0e88d1414d94647542601463882023-11-26T14:31:34ZengBMCBMC Pregnancy and Childbirth1471-23932023-11-012311610.1186/s12884-023-06133-zHigh sensitivity and specificity in fetal gender identification in the first trimester, using ultrasound and Noninvasive Prenatal Screening (NIPS) in twin pregnancies, a prospective studyRan Svirsky0Adi Sharabi-Nov1Tal Sagi2Hamutal Meiri3Orenstein Adi4Nadav Kugler5Ron Maymon6Department of Obstetrics and Gynecology, Genetic Unit, Samson Assuta Ashdod University HospitalDepartment of Statistics, Ziv Medical Center, Safed and Tel Hai Academic CollegeDepartment of Obstetrics and Gynecology, Shamir (Assaf Harofeh) Medical CenterPreTwin Screen Consortium and TeleMarpe LtdDepartment of Obstetrics and Gynecology, Shamir (Assaf Harofeh) Medical CenterDepartment of Obstetrics and Gynecology, Shamir (Assaf Harofeh) Medical CenterDepartment of Obstetrics and Gynecology, Shamir (Assaf Harofeh) Medical CenterAbstract Introduction Determination of the fetal gender in the first trimester is important in twin pregnancy cases of familial X-linked genetic syndromes and helps determine chorionicity. We assessed and compared the accuracy of first-trimester ultrasound scans, and cell-free fetal DNA (CfDNA) in determining fetal gender in the first trimester of twin pregnancies. Methods Women with twin pregnancies were recruited prospectively during the first trimester. Fetal gender was determined using both ultrasound scans and CfDNA screening. Both results were compared to the newborn gender after delivery. Results A total of 113 women with twin pregnancies were enrolled. There was 100% sensitivity and specificity in Y chromosome detection using CfDNA. Gender assignment using ultrasound in any first-trimester scans was 79.7%. Accuracy level increased from 54.2% in CRL 45-54 mm to 87.7% in CRL 55-67 mm and 91.5% in CRL 67-87 mm. Male fetuses had significantly higher chances of a gender assignment error compared to female fetuses, odds ratio = 23.574 (CI 7.346 - 75.656). Conclusions CfDNA is highly sensitive and specific in determining the presence of the Y chromosome in twin pregnancies in the first trimester. Between CRL 55-87 mm, ultrasound scanning offers a highly accurate determination of fetal gender in twin pregnancies.https://doi.org/10.1186/s12884-023-06133-zGenderUltrasoundCell-free DNATwin pregnancyCRL- Crown Rump LengthY chromosome
spellingShingle Ran Svirsky
Adi Sharabi-Nov
Tal Sagi
Hamutal Meiri
Orenstein Adi
Nadav Kugler
Ron Maymon
High sensitivity and specificity in fetal gender identification in the first trimester, using ultrasound and Noninvasive Prenatal Screening (NIPS) in twin pregnancies, a prospective study
BMC Pregnancy and Childbirth
Gender
Ultrasound
Cell-free DNA
Twin pregnancy
CRL- Crown Rump Length
Y chromosome
title High sensitivity and specificity in fetal gender identification in the first trimester, using ultrasound and Noninvasive Prenatal Screening (NIPS) in twin pregnancies, a prospective study
title_full High sensitivity and specificity in fetal gender identification in the first trimester, using ultrasound and Noninvasive Prenatal Screening (NIPS) in twin pregnancies, a prospective study
title_fullStr High sensitivity and specificity in fetal gender identification in the first trimester, using ultrasound and Noninvasive Prenatal Screening (NIPS) in twin pregnancies, a prospective study
title_full_unstemmed High sensitivity and specificity in fetal gender identification in the first trimester, using ultrasound and Noninvasive Prenatal Screening (NIPS) in twin pregnancies, a prospective study
title_short High sensitivity and specificity in fetal gender identification in the first trimester, using ultrasound and Noninvasive Prenatal Screening (NIPS) in twin pregnancies, a prospective study
title_sort high sensitivity and specificity in fetal gender identification in the first trimester using ultrasound and noninvasive prenatal screening nips in twin pregnancies a prospective study
topic Gender
Ultrasound
Cell-free DNA
Twin pregnancy
CRL- Crown Rump Length
Y chromosome
url https://doi.org/10.1186/s12884-023-06133-z
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