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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
Svirsky, R.; Sharabi-Nov, A.; Sagi, T.; Meiri, H.; Adi, O.; Kugler, N.; Maymon, R. 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 2023, 23, doi:10.1186/s12884-023-06133-z.
Svirsky, R.; Sharabi-Nov, A.; Sagi, T.; Meiri, H.; Adi, O.; Kugler, N.; Maymon, R. 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 2023, 23, doi:10.1186/s12884-023-06133-z.
Svirsky, R.; Sharabi-Nov, A.; Sagi, T.; Meiri, H.; Adi, O.; Kugler, N.; Maymon, R. 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 2023, 23, doi:10.1186/s12884-023-06133-z.
Svirsky, R.; Sharabi-Nov, A.; Sagi, T.; Meiri, H.; Adi, O.; Kugler, N.; Maymon, R. 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 2023, 23, doi:10.1186/s12884-023-06133-z.
Abstract
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 circulating cell-free fetal DNA (cffDNA) performed by non-invasive prenatal screening (NIPS) in determining fetal gender in the first trimester of twin pregnancies. For this purpose, we enrolled prospectively pregnant women with twin during the first trimester, gestational week (GA) 11-13. The fetal gender was determined using both ultrasound scans and cffDNA screening. Both results were compared to the newborn gender at delivery. A total of 113 women with twin pregnancies were enrolled. There was 100% sensitivity and specificity in Y chromosome detection using cffDNA. The accuracy of 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 = 23.57 (CI 7.356 - 75.66). This is the first study that compared the accuracy of gender determination in the first trimester by cffDNA and by ultrasound scanning in twin pregnancy. It was concluded that the cffDNA is highly sensitive and specific in determining the presence of the Y chromosome in twin pregnancies in the first trimester. Between CRL 67-87 mm, ultrasound scanning offers a highly accurate determination of fetal gender in twin pregnancies. Larger cohorts of multi-center studies are warranted.
Medicine and Pharmacology, Obstetrics and Gynaecology
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