Abnormalities In First Trimester Research Articles

Incidence and Types of Fetal Chromosomal Abnormalities in First Trimester of Thai Pregnant Women between Miscarriages and Intrauterine Survivals

Abortion is a common pregnancy complication. Fetuses with several types of chromosomal abnormalities are aborted during the first trimester, while others have a better chance of surviving. This research aims to study and compare the incidence and types of fetal chromosomal abnormalities during the first trimester of Thai pregnant women between miscarriages and intrauterine survivals. Cytogenetic and BACs-on-Beads™ assays were assessed from 2010 to 2020 in Ramathibodi Hospital using first trimester samples of 265 chorionic villi as a retrospective study. Chromosomal abnormalities were observed in 135 cases (50.94%) including 38.11% miscarriages and 12.83% intrauterine survivals. In total, 75.56% single autosomal trisomies, 18.52% sex chromosome aneuploidies, 5.19% double aneuploidies, and 0.74% structural abnormalities were detected. In miscarriages, all chromosomes were involved in abnormalities except chromosomes 1, 5, 8, 9, 11, and 17, while survivals had only trisomy 13, 18, 21, and sex chromosome aneuploidy. Trisomy 16 and 18 were the most common abnormalities in miscarriages and intrauterine survivals, respectively. The highest rate of chromosomal aberrations was demonstrated in 8–9⁺⁶ and 12–13⁺⁶ weeks of gestation in miscarriages and intrauterine survivals, respectively. Correlation between chromosomal abnormalities and maternal age <35 years and ≥35 years was significant (p < 0.05) in intrauterine survival and first trimester groups.

OP02.06: Correlation of ultrasonographic, pathological and cytogenetic findings in structural abnormalities diagnosed in first trimester during five‐year period

Aim of the study was to verify validity of ultrasound in detecting structural abnormalities in first trimester by comparison of ultrasonographic findings, pathological assessment and caryotype. Retrospective analysis of cases with ultrasonographically detected structural abnormalities in first-trimester screening in tertiary centre during five-year period. Concordance between ultrasound diagnosis, pathological assessment and caryotype obtained from aborted fetuses was evaluated. First-trimester ultrasound screening was performed in 2121 women referred to our institution in the period 2001–2005. Range of gestational age was 12–14 weeks. Severe structural abnormity was detected in 22 cases (1.04%). There were 6 cases (27.3%) of central nervous system abnormality, 4 cases (18.2%) of congenital heart disease, 4 cases (18.2%) of abdominal wall defect, 4 cases (18.2%) of urinary system abnormality and 1 case (4.5%) of skeletal dysplasia. Multiple defects were detected in 3 fetuses (13.8%). All pregnancies were terminated according to family decision. Pathological assessment was performed in 18 fetuses (81.8%). There was complete concordance between ultrasonographic and pathological findings in all these 18 cases. Other 4 fetuses (18.2%) were not pathologically assessed because of fetal maceration. Cytogenetic analysis was performed in 16 fetuses (72.7%). Abnormal caryotype was found in 6 fetuses (37.5%). First-trimester ultrasound screening allows reliable early detection of severe structural abnormalities. Supported by Grant IGA MZ CR 8350–3.

OP02.07: Interdisciplinary ethical decision‐making by ethics forum following prenatal diagnosis of major fetal anomalies

Objective: Aim of the study was to verify validity of ultrasound in detecting structural abnormalities in first trimester by comparison of ultrasonographic findings, pathological assessment and caryotype. Methods: Retrospective analysis of cases with ultrasonographically detected structural abnormalities in first-trimester screening in tertiary centre during five-year period. Concordance between ultrasound diagnosis, pathological assessment and caryotype obtained from aborted fetuses was evaluated. Results: First-trimester ultrasound screening was performed in 2121 women referred to our institution in the period 2001–2005. Range of gestational age was 12–14 weeks. Severe structural abnormity was detected in 22 cases (1.04%). There were 6 cases (27.3%) of central nervous system abnormality, 4 cases (18.2%) of congenital heart disease, 4 cases (18.2%) of abdominal wall defect, 4 cases (18.2%) of urinary system abnormality and 1 case (4.5%) of skeletal dysplasia. Multiple defects were detected in 3 fetuses (13.8%). All pregnancies were terminated according to family decision. Pathological assessment was performed in 18 fetuses (81.8%). There was complete concordance between ultrasonographic and pathological findings in all these 18 cases. Other 4 fetuses (18.2%) were not pathologically assessed because of fetal maceration. Cytogenetic analysis was performed in 16 fetuses (72.7%). Abnormal caryotype was found in 6 fetuses (37.5%). Conclusions: First-trimester ultrasound screening allows reliable early detection of severe structural abnormalities. Supported by Grant IGA MZ CR 8350–3.

The Risk of Cytogenetic Abnormalities in the Late First Trimester in Pregnancies Conceived By Couples With Infertility

The Risk of Cytogenetic Abnormalities in the Late First Trimester in Pregnancies Conceived By Couples With Infertility