Early Amniocentesis Versus Transabdominal Chorionic Villus Sampling for Early Invasive Prenatal Diagnosis: A 15-Year Prospective Cohort Study.
- 1Department of Obstetrics and Gynaecology, Podobnik Special Hospital, 10000 Zagreb, Croatia.
- 2DA VINCI Polyclinic, Petrovaradinska Ulica 110, 10000 Zagreb, Croatia.
- 3University Centre Varaždin, University North, 42000 Varaždin, Croatia.
Abstract
Background
Two sampling routes are available when definitive genetic testing is required in the first trimester: early amniocentesis (EA) and transabdominal chorionic villus sampling (TA-CVS). Direct comparisons of the two at 11 to 14 weeks of gestation are, however, few. Our aim was to place the techniques side by side in terms of the genetic information they yield, the chromosomal abnormalities they uncover and the pregnancy outcomes that follow them.Methods
This single-operator, prospective cohort study evaluated singleton pregnancies between 11 and 14 weeks of gestation across 15 years (2010-2024), comparing TA-CVS with EA. Fluid for EA was withdrawn by amniovacucentesis (3-5 mL of amniotic fluid) through a 22-gauge needle, while villus tissue was taken with a 20-gauge needle, both with the ultrasound image visible throughout. Color Doppler assessment of the uteroplacental and fetal vessels and of the fetal heart rate preceded and followed every procedure. Material obtained by either route underwent cytogenetic testing, and targeted copy-number variant (CNV) analysis was added whenever ultrasonography had shown a major structural abnormality.Results
Of 3238 singleton pregnancies, a cytogenetic result was achieved in 1611 of 1613 (99.9%) EA and in 1622 of 1625 (99.8%) TA-CVS cases. An abnormal chromosome finding was present in 138 cases (4.3%), while pathogenic CNVs emerged in 5 of 35 (14.3%) fetuses with structural abnormalities. Spontaneous abortion affected 4 of 1613 EA pregnancies (0.25%) and 3 of 1625 TA-CVS pregnancies (0.18%; difference 0.06%, 95% CI -0.32 to 0.47%; p = 0.73). Talipes occurred in two EA cases and none after TA-CVS, whereas hemangiomas occurred in two TA-CVS cases and none after EA. Premature rupture of membranes, preterm delivery, neonatal respiratory distress and neonatal anomalies did not differ between the groups. Doppler pulsatility indices were essentially unchanged after both procedures; small changes reached statistical significance only in the umbilical (p = 0.032) and middle cerebral (p < 0.001) arteries, and all were transient and unaccompanied by clinical complications.Conclusions
Fetal-derived material adequate for first-trimester genetic diagnosis was obtained by both routes, with cytogenetic results in more than 99% of pregnancies. Beyond the conventional chromosomal abnormalities, targeted CNV analysis added clinically meaningful diagnoses in fetuses with structural anomalies. Invasive fetal sampling therefore retains a definite place in definitive prenatal genetic diagnosis in the era of NIPT.
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BibTeX
@article{podobnik2026early,
title = {{Early Amniocentesis Versus Transabdominal Chorionic Villus Sampling for Early Invasive Prenatal Diagnosis: A 15-Year Prospective Cohort Study.}},
author = {Petra Podobnik and Tomislav Meštrović and Mario Podobnik and Igor Lončar and Zlata Srebreniković and Dženis Jelčić and Slava Podobnik-Šarkanji and Vesna Benjak and Vesna Vukelić},
journal = {Genes},
year = {2026},
month = sep,
doi = {10.3390/genes17101194},
url = {https://europepmc.org/article/MED/42938310},
note = {CC BY},
}
RIS
TY - JOUR
TI - Early Amniocentesis Versus Transabdominal Chorionic Villus Sampling for Early Invasive Prenatal Diagnosis: A 15-Year Prospective Cohort Study.
AU - Petra Podobnik
AU - Tomislav Meštrović
AU - Mario Podobnik
AU - Igor Lončar
AU - Zlata Srebreniković
AU - Dženis Jelčić
AU - Slava Podobnik-Šarkanji
AU - Vesna Benjak
AU - Vesna Vukelić
PY - 2026
DA - 2026/09/26
JO - Genes
DO - 10.3390/genes17101194
UR - https://europepmc.org/article/MED/42938310
AB - Background Two sampling routes are available when definitive genetic testing is required in the first trimester: early amniocentesis (EA) and transabdominal chorionic villus sampling (TA-CVS). Direct comparisons of the two at 11 to 14 weeks of gestation are, however, few. Our aim was to place the techniques side by side in terms of the genetic information they yield, the chromosomal abnormalities they uncover and the pregnancy outcomes that follow them.Methods This single-operator, prospective cohort study evaluated singleton pregnancies between 11 and 14 weeks of gestation across 15 years (2010-2024), comparing TA-CVS with EA. Fluid for EA was withdrawn by amniovacucentesis (3-5 mL of amniotic fluid) through a 22-gauge needle, while villus tissue was taken with a 20-gauge needle, both with the ultrasound image visible throughout. Color Doppler assessment of the uteroplacental and fetal vessels and of the fetal heart rate preceded and followed every procedure. Material obtained by either route underwent cytogenetic testing, and targeted copy-number variant (CNV) analysis was added whenever ultrasonography had shown a major structural abnormality.Results Of 3238 singleton pregnancies, a cytogenetic result was achieved in 1611 of 1613 (99.9%) EA and in 1622 of 1625 (99.8%) TA-CVS cases. An abnormal chromosome finding was present in 138 cases (4.3%), while pathogenic CNVs emerged in 5 of 35 (14.3%) fetuses with structural abnormalities. Spontaneous abortion affected 4 of 1613 EA pregnancies (0.25%) and 3 of 1625 TA-CVS pregnancies (0.18%; difference 0.06%, 95% CI -0.32 to 0.47%; p = 0.73). Talipes occurred in two EA cases and none after TA-CVS, whereas hemangiomas occurred in two TA-CVS cases and none after EA. Premature rupture of membranes, preterm delivery, neonatal respiratory distress and neonatal anomalies did not differ between the groups. Doppler pulsatility indices were essentially unchanged after both procedures; small changes reached statistical significance only in the umbilical (p = 0.032) and middle cerebral (p < 0.001) arteries, and all were transient and unaccompanied by clinical complications.Conclusions Fetal-derived material adequate for first-trimester genetic diagnosis was obtained by both routes, with cytogenetic results in more than 99% of pregnancies. Beyond the conventional chromosomal abnormalities, targeted CNV analysis added clinically meaningful diagnoses in fetuses with structural anomalies. Invasive fetal sampling therefore retains a definite place in definitive prenatal genetic diagnosis in the era of NIPT.
SN - 2073-4425
ER -