Assessment of Cardiovascular Health of Children Ages 6 to 10 Years Conceived by Assisted Reproductive Technology.

Importance: Assisted reproductive technology (ART) has been widely used for treatment of infertility and has brought millions of births worldwide. The health of offspring conceived by ART has been of much concern, and adverse cardiovascular health outcomes have been reported by previous studies. Objective: To assess the cardiovascular health of children conceived by ART. Design, Setting, and Participants: This cohort study was conducted among participants recruited from November 2017 to February 2019. Participants were 382 children conceived by ART who were selected from a single reproductive center and 382 children who were naturally conceived, randomly selected from a primary school, and matched by sex, age, and maternal age at the child's birth (2 years older or younger). Data were analyzed from March 2019 through December 2019. Exposures: Conception by ART. Main Outcomes and Measures: Blood pressure was measured, and echocardiography was performed to determine left ventricular structural and functional parameters. Adjusted relative wall thickness (aRWT) was found for age, with high RWT defined as an aRWT of 0.375 or more. Results: Among 764 children aged 6 to 10 years, 382 children were conceived by ART (mean [SD] age, 7.20 [1.21] years; 201 [52.6%] boys) and 382 children were naturally conceived (mean [SD] age, 7.20 [1.21] years; 201 [52.6%] boys). Children conceived by ART had statistically significantly increased mean (SD) height (130.2 [9.5] cm vs 128.5 [8.1] cm; P = .007) and body mass index (17.6 [3.6] vs 17.1 [2.7]; P = .03). Those conceived by ART, compared with children in the matched control group, had statistically significantly increased blood pressure (mean [SD] systolic blood pressure, 105.5 [6.9] mm Hg vs 103.5 [8.4] mm Hg; adjusted P < .001; mean [SD] diastolic blood pressure, 67.2 [5.6] mm Hg vs 62.2 [6.3] mm Hg ; adjusted P < .001), left ventricular systolic dysfunction (mean [SD] left ventricular ejection fraction, 64.61% [3.20%] vs 66.70% [3.89%]; adjusted P < .001), and diastolic dysfunction (mean [SD] early/late mitral/tricuspid diastolic velocities ratio, 1.66 [0.28] vs 2.21 [0.36]; adjusted P < .001). They also had statistically significantly increased parameters of left ventricular structure, including mean (SD) left ventricular mass index (31.97 [5.04] g/m2.7 vs 28.28 [3.54] g/m2.7; adjusted P < .001) and RWT (3.30 [0.41] mm vs 2.98 [0.14] mm; adjusted P < .001). Additionally, children conceived by ART had statistically significantly increased prevalence of left ventricular hypertrophy (9 children [2.4%] vs 2 children [0.5%]; P = .03), high RWT (61 children [16.0%] vs 0 children; P < .001), and left ventricle remodeling patterns, including concentric remodeling (60 children [15.7%] vs 0 children), eccentric hypertrophy (8 children [2.1%] vs 2 children [0.5%]), and concentric hypertrophy (1 child [0.3%] vs 0 children) (P for left ventricle remodeling < .001). Conclusions and Relevance: This study found that children conceived by ART had increased blood pressure and unfavorable changes in left ventricular structure and function compared with children who were naturally conceived. These findings suggest that further studies are needed to investigate the potential mechanisms and long-term outcomes associated with these differences.

Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment.

A couple with a proband child of GJB2 (encoding the gap junction protein connexin 26)-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Our study aimed to develop a customized preconception-to-neonate care trajectory to fulfill this clinical demand by integrating preimplantation genetic diagnosis (PGD), noninvasive prenatal testing (NIPT), and noninvasive prenatal diagnosis (NIPD) into the strategy. Auditory and genetic diagnosis of the proband child was carried out to identify the disease causative mutations. The couple then received in-vitro-fertilization treatment, and eight embryos were obtained for day 5 biopsy. PGD was performed by short-tandem-repeat linkage analysis and Sanger sequencing of GJB2 gene. Transfer of a GJB2c.235delC heterozygous embryo resulted in a singleton pregnancy. At the 13th week of gestation, genomic DNA (gDNA) from the trio family and cell-free DNA (cfDNA) from maternal plasma were obtained for assessment of fetal chromosomal aneuploidy and GJB2 mutations. NIPT and NIPD showed the absence of chromosomal aneuploidy and GJB2-associated disease in the fetus, which was later confirmed by invasive procedures and postnatal genetic/auditory diagnosis. This strategy successfully prevented the transmission of hearing impairment in the newborn, thus providing a valuable experience in reproductive management of similar cases and potentially other monogenic disorders.

Assessment of sex chromosomes of human embryos arising from monopronucleus zygotes in in vitro fertilization and intracytoplasmic sperm injection cycles of Chinese women.

OBJECTIVES: To examine abnormal fertilization phenomena in blastomeres of embryos generated from conventional IVF and ICSI displaying a single pronucleus at the zygote stage. METHODS: 132 embryos from monopronuclear zygotes (1PN) generated from conventional IVF and ICSI were examined by FISH (fluorescent in situ hybridization) with X, Y dual color centromere probes. RESULTS: In the embryos that were obtained from conventional IVF, the percentage of diploid, monoploid and mosaic sex chromosome were 54.35, 23.91 and 21.74%, respectively. In the embryos from 1PN zygotes derived from ICSI, the percentage of diploid, monoploid and mosaic sex chromosomes were 31.51, 31.51 and 36.99%, respectively. For monoploid embryos, the ratio of XO was significantly higher than that of YO in both conventional IVF and ICSI groups. CONCLUSION: The results demonstrated that the majority of embryos derived from 1PN zygotes generated with conventional IVF or ICSI have a high incidence of aneuploidy. Furthermore, the sex chromosome diploid ratio of embryos from 1PN zygotes derived from conventional IVF was significantly higher than those generated from ICSI procedure in Chinese women. Nevertheless, the high proportion of aneuploid embryos suggests that such embryos should not be utilized for embryo transfer.

[Investigation of body hair assessment of Chinese women in Shandong region and its preliminary application in polycystic ovary syndrome patients].

OBJECTIVE: To determine a suitable standard of hirsutism for Chinese polycystic ovary syndrome (PCOS) patients living in Shandong region. METHODS: A total of 623 unbiased women from the general population in Jinan city, 131 PCOS patients and 84 controls from outpatients in Shandong region were studied with questionnaires, physical and pelvic ultrasound examination, body hair on 11 sites were evaluated, and 9 (lip, chin, arm, thigh, chest, upperbelly, lowerbelly, upperback, lowback) of them which were called hormone Ferriman-Gallwey (F-G) score and 2 (forearm, leg) sites of indifferent hormone score were calculated according to the score system described by Ferriman and Gallwey. RESULTS: (1) Both body hair F-G score and indifferent hormone score distribution mode in the or= 2 (chi(2) = 47.68, P < 0.01), but no statistic difference by F-G score >or= 6 criterion (chi(2) = 0.64, P = 0.42). (3) F-G scores were declined with age increase. The hair score on the lip, chest, lowerbelly in general population were positively correlated with F-G score (r = 0.712, 0.594, 0.522; P < 0.01) and in PCOS patients (r = 0.879, 0.682, 0.710; P < 0.01), and on the lip in controls (r = 0.950, P < 0.01). (4) The correlation contingency coefficient between hirsutism (F-G score >or= 2) and lip, chest, lowerbelly site in general population was 0.461, 0.420, 0.489 and was 0.560, 0.532, 0.503 in PCOS group respectively. CONCLUSIONS: (1) Both body hair F-G score and indifferent hormone score distribution mode are significantly different from Ferriman-Gallwey's report; according to our investigation the suitable criterion of hirsutism for Chinese women in Shandong region should be >or= 2 scores. (2) By F-G score >or= 2 standard, hirsutism is more common in PCOS than in control. (3) Lip, chest, and lowerbelly are the main sites to determine the hirsutism status of women, and the later two sites are more specific for PCOS hirsutism. Forearm and leg score can indicate hirsutism status in some degree but are not specific and sensitive for PCOS hirsutism.