Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy

• Published in: Prenatal diagnosis Vol. 25; no. 12; pp. 1111 - 1116
• Main Authors: Hyett, Jon A., Gardener, Glenn, Stojilkovic-Mikic, Taita, Finning, Kirstin M., Martin, Peter G., Rodeck, Charles H., Chitty, Lyn S.
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01-12-2005; Wiley
• Subjects: Biological and medical sciences; Chromosomes, Human, X; Cohort Studies; DNA - blood; Female; fetal sexing; free fetal DNA; Genetic Diseases, X-Linked - diagnosis; Gestational Age; Gynecology. Andrology. Obstetrics; Humans; Management. Prenatal diagnosis; Medical sciences; Polymerase Chain Reaction; Pregnancy; Pregnancy. Fetus. Placenta; prenatal diagnosis; Prenatal Diagnosis - methods; Prospective Studies; Sex Determination Analysis - methods; Ultrasonography, Prenatal; ultrasound; Sonography; Human; Prenatal Diagnosis; free fetal DNA; Exploration; Treatment; Sexing; DNA; Non invasive method; Fetus; Early pregnancy; Technique; Ultrasound; fetal sexing
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.1284

Objective
This study reviews our clinical experience of non‐invasive techniques for early sex determination. It assesses the effectiveness of these techniques at reducing invasive prenatal testing for X‐linked genetic disease or for ambiguous development of the external genitalia.
Methods
A prospective cohort study of 30 pregnancies was referred to a tertiary unit for prenatal diagnosis. Fetal gender was determined using two non‐invasive techniques: analysis of free fetal DNA (ffDNA) in maternal plasma and ultrasound visualisation. The results were compared to fetal gender determined by invasive testing or at birth.
Results
Fetal gender was accurately determined by analysis of ffDNA at a mean of 10 + 1 (7 + 6 to 14 + 1) weeks' gestation in all cases. Ultrasound assessment was accurate in 20 of the 23 cases where this was attempted at 12 + 0 (10 + 4 to 14 + 1) weeks' gestation, but could not be determined in the remaining 3 cases. Thirteen of 28 (46%) women chose not to have invasive testing on the basis of these findings.
Conclusions
Both the techniques appear to offer an accurate means of assessing fetal gender, giving parents the option of avoiding invasive testing in the 50% of cases where the fetus would not be affected. The molecular technique is performed at an earlier gestation, but female fetal status is predicted by a negative test result. Ultrasound cannot be applied until 11 weeks' gestation but diagnostic signs are sought in both sexes. Combining these approaches offers a highly sensitive method of non‐invasive determination of gender in high‐risk pregnancies. Health professionals, clinical geneticists and genetics associates, in particular, who refer women at high risk should be aware of these non‐invasive options for prenatal sex determination. Copyright © 2005 John Wiley & Sons, Ltd.