Pregestational Screening Research Articles

Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10-year follow-up study.

Thalassaemia is highly prevalent in southeastern China. This 10-year follow-up study aimed to characterize the genotype and karyotype of thalassaemia in fetal samples derived from thalassemia carriers in Fujian province, southeastern China. A total of 476 prenatal samples from 472 couples carrying α-thalassaemia traits and 224samples from 223 couples carrying β-thalassaemia traits were collected for STR analysis, detection of thalassemia genotypes and karyotyping. The common deletional α-thalassemias and rare thalassemia genotypes were detected using Gap-PCR assay, and the common β-globin gene mutations were detected using PCR-RDB assay. We detected 43.49% prevalence of α-thalassaemia minor, 26.05% prevalence of α-thalassaemia intermediate and major and 1.89% prevalence of rare form among the 476 prenatal samples from couples with α-thalassaemia, and 85 fetuses with β-thalassemia heterozygote, 16 with homozygote and 21 with double heterozygote, and a rare βIVS-2-654(C→T) /Chinese Gγ (A γδβ)0 genotype among the 224 prenatal samples from couples with β-thalassemia. Karyotyping showed 7 fetuses with abnormal karyotypes. Totally 153 pregnancies were terminated, and genetic diagnosis of thalassemia using fetal umbilical cord blood following induction of labor showed consistent results with prenatal diagnosis. No thalassemia phenotypes were identified in normal infants half a year after birth, and the infants with α-thalassemia and β-thalassemia minor had no or mild anemia symptoms, but normal development, while 15 babies with hemoglobin H disease presented moderate anemia symptoms. Our data suggest the pregestational screening of thalassemia, notably compound and rare forms of thalassemia, for couples carrying thalassemia traits.

Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China.

Mutations in genes associated with deafness differ between ethnic groups and regions in China. In this study, we investigated the genes associated with deafness in pregnant women to analyze the distribution of mutations leading to deafness in Zhuzhou, China. A total of 10,684 pregnant women were enrolled in this study. DNA samples were collected to detect the 14 common mutations in deafness genes (at 108 sites). Prevalence of mutations in deafness genes in pregnant women with normal hearing in Zhuzhou was 4.92% (526/10,684). Among these 526 pregnant women with deafness gene mutations, the frequencies of mutated GJB2, GJB3, SLC26A4, and mtDNA 12S rRNA were 40.11, 7.22, 40.68, and 11.98%, respectively. The hotspots for mutations in the deafness genes were: c.235delC in GJB2 (31.18%), c.919-2A > G in SLC26A4 (18.44%), c.299_300delAT in GJB2 (5.70%), m.7444G > A in mtDNA 12S rRNA (5.70%), c.1229C > T in SLC26A4 (5.51%), m.1555A > G in mtDNA 12S rRNA (5.32%), accounting for 71.85%. Moreover, husbands of the 526 pregnant women who carried the deafness gene mutations were also included in the analysis to detect deafness gene mutations. Among the 526 husbands, 23 husbands carried mutations in deafness genes, accounting for 4.37%. The deafness gene mutations of the husbands and pregnant wives were not the same. In addition, the results of the neonatal follow-up hearing tests were all normal. Our study identified the prevalence of mutations in GJB2, SLC26A4, mtDNA 12S rRNA, and GJB3 genes in pregnant women from Zhuzhou, China.

Association of The First Trimester Anemia and Fetal Birth Weight

Introduction: Pregnancy and delivering a baby are the most important achievements occurring in a woman`s life and her family. Although it is a physiologic event, there would happen some complications that could mostly be prevented by prenatal care. The objective of this study was to assess the relationship of the first trimester maternal hemoglobin and fetal birth weight. Materials & Methods: This descriptive- analytical study was performed on 3000 pregnant women of 18 to 40 years old with less than 12 weeks of gestational age, referred to health centers in Qazvin province. Hemoglobin measurements were performed by routine laboratorial tests and then recorded in the questioners; afterward, the mothers were followed throughout the gestation period up to the delivery term. Then, the fetal birth weights were recorded. Anemia was defined as Hb less-than 11 g/dl and low birth weight was defined as Fbwt less-than 2500 grams. Findings: This study presented that 11.4% of babies had low birth weights ( less-than 2500 grams). Anemia prevalence was 22.2%. 7.2% of babies in anemia group and 4.2% of babies in normal Hb group were of low birth weight ( less-than 2500 grams) with significant difference (P less-than 0.001). The relative risk for low birth weight babies in anemic mothers was1.81 (95% Confidence interval; 1.24-2.62). Discussion & Conclusions: This study demonstrated that lower birth weight babies in anemic mothers were more prevalent. Therefore, pre-gestational screening and anemia treatment is highly recommended in women of reproductive age.

Is it the egg or the endometrium? Elevated progesterone on day of trigger is not associated with embryo ploidy nor decreased success rates in subsequent embryo transfer cycles.

The purpose of our study was to determine if progesterone (P4) values on day of trigger affect certain cycle outcome parameters, ploidy status of embryos, as well as pregnancy outcomes in the subsequent first frozen embryo transfer cycle. Two hundred thirty-eight patients undergoing pre-gestational screening and freeze all protocol at our fertility center from 2013 to 2014 were included. Excluded patients were those whom had cancelled cycles prior to egg retrieval as well as cycles utilizing donor eggs. Once patients were identified as eligible for this study, frozen serum from the day of trigger was identified and analyzed using the Siemens Immulite 2000. Number of eggs retrieved, number of available embryos for biopsy, and number of euploid/aneuploid embryos were analyzed. The first frozen embryo transfer cycle was linked to the initial egg retrieval and outcomes including pregnancy rates, and live birth/ongoing pregnancy rates were calculated and analyzed. A discriminatory P4 value of 1.5ng/ml was set. Group A had P4 values of less than 1.5ng/ml and group B had P4 values greater than or equal to 1.5ng/ml. T tests and chi-squared tests were used for statistical analysis. Group A had an average trigger P4 value of 0.87 +/- 0.3 and group B had an average trigger P4 of 2.1 +/- 0.8. Table 1 shows the baseline characteristics of both group A and group B. The only significant difference between the two groups was total gonadotropin dosage (IU) with a p value of 0.02 and estradiol (pg/ml) at trigger, also with a p value of 0.02 (Table 1). Number of eggs retrieved, number of embryos biopsied, number euploid/aneuploid, and non-diagnosis embryos were all non-significant. Chi-square analysis was used to compare pregnancy rates between the two groups after the first frozen embryo transfer cycle. Group A had a pregnancy rate of 72% and Group B had a pregnancy rate of 66.7%, which was not significant. Ongoing pregnancy/live birth rates were 65.6% in group A and 66.67% in group B, also not significant (Table 2). P4 values on day of trigger do not affect number of eggs retrieved and number of chromosomally normal embryos available for transfer in a subsequent embryo transfer cycle. Elevated P4 values (≥1.5ng/ml) also do not affect pregnancy rates or live birth/ongoing pregnancy rates in the first subsequent frozen embryo transfer cycle.

O-51: The genetic factor in recurrent miscarriage

1.) To assess the incidence of embryonic chromosomal aberrations in recurrent first trimester miscarriage, and subsequent prognosis. 2.) Whether parental karyotyping or pregestational screening (PGS) are valid substitutes. A computerized literature search was made of medline embase etc. using the relevant key words, and of our own database of 1800 patients. The details of publications in the literature and of our own database were entered into a computerised database, (SPSS, Chicago, Ill.). The following questionswere asked:- 1). The prevalence of fetal chromosomal aberrations. 2). Outcome of the subsequent pregnancy. 3). Was repeat fetal aneuploidy reported. 4). Outcome of subsequent pregnancy in parental chromosomal aberrations. 5). Karyotype of the abortus in the presence of parental karyotypic aberrations. 6). Live birth rate and implantation rate in PGS and recurrent miscarriage. Five studies assessed fetal karyotyping in recurrent miscarriage. The mean number of miscarriages was 4.12± 0.48. The incidence of fetal chromosomal aberrations varied between 25% - 57%, (mean 41.6% ± 13.9). The prognosis for a subsequent pregnancy was available in two series. 62.9% (51 of 81) of pregnancies terminated in live births after aneuploidic abortions compared to only 37.9% (41 of 108) after euploid abortions (OR = 2.78, CI 1.47-5.27). Two papers provide information on repeat karyotyping. Only 11 of 73 patients (15%) aborted a second aneuploid abortion. There are three series on the prognosis in parental karyotypic aberrations. There was a 47.5% live birth rate in patients with a mean of 3.7 previous miscarriages. Additionally, one series has karyotyped the abortus in the presence of parental karyotypic aberrations. 27 of 39 (69%) abortuses were chromosomally normal. Hence, parental karyotyping does not provide a diagnosis or prognosis. Two series have shown that there is an increased prevalence of chromosomal aberrations at PGS, when the embryos of women with recurrent pregnancy loss are compared to controls (63% and 45% respectively). Although two series have shown a 74% live birth rate after PGS. The pregnancy rate was only 23%. There is no substitute for karyotyping the abortus in recurrent miscarriage, as this allows a diagnosis, and accurate prognosis to be made. Parental karyotyping is a poor substitute, as it does not make a diagnosis nor does it give a prognosis. PGS is of limited value, as some patients with recurrent miscarriage, and no infertility had been converted from miscarriage to implantation failure. However, PGS has a place in certain subgroups of patient including the older patient, and pregestational diagnosis has a place in the few patients with parental chromosomal aberrations who abort chromosomally abnormal embryos, and those with repeat embryonic aneuploidy. However, the definition of these subgroups depends on accuratel determination of the fetal karyotype.

O▪60 Calculation of intrinsic handicaps of pregestational screening

O▪60 Calculation of intrinsic handicaps of pregestational screening