Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy

Purpose

The purpose of this study is to review recurrent pregnancy loss (RPL) due to sperm chromosomal abnormalities and discuss the genetic counseling that is required for men with sperm chromosomal abnormalities.

Method

The literature was reviewed, and a genetic counselor lends her expertise as to how couples with RPL and sperm chromosomal abnormalities ought to be counseled. The review of the literature was performed using MEDLINE.

Results

Sperm fluorescence in situ hybridization (FISH) can be used to determine if disomy or unbalanced chromosomal translocations are present. In men with aneuploidy in sperm or who carry a chromosomal translocation, pre-implantation genetic screening (PGS) combined with in vitro fertilization (IVF) and intra-cytoplasmic sperm injection (ICSI) can increase chances of live birth. In men with abnormal sperm FISH results, the degree of increased risk of abnormal pregnancy remains unclear. Genetic counselors can provide information to couples about the risk for potential trisomies and sex chromosome aneuploidies and discuss their reproductive and testing options such as PGS, use of donor sperm, and adoption. The provision of genetic counseling also allows a couple to be educated about recommended prenatal testing since pregnancies conceived with a partner who has had abnormal sperm FISH are considered to be at increased risk for aneuploidy.

Conclusion

We review the literature and discuss genetic counseling for couples with RPL or recurrent implantation failure due to increased sperm aneuploidy.

     

Pre-implantation genetic testing: decisional factors to accept or decline among in vitro fertilization patients

Purpose

Embryo testing to improve pregnancy outcomes among individuals who are seeking assisted reproduction technologies is increasing. The purpose of this study was to assess decisional factors through in-depth interviews for why women would accept or decline preimplantation genetic testing for aneuploidy (PGT-A) with in vitro fertilization (IVF).

Methods

Semi-structured telephone interviews were conducted with 37 women who were offered PGT-A with IVF during the summer 2017. Interviews lasted on average 40 min and were audio-recorded, transcribed, and analyzed using a content analysis.

Results

Results identified a number of decisional factors related to values about conception, disability, and pregnancy termination, past pregnancy experiences, optimism toward technology, and cost. Other key issues that were identified include the use of expanded carrier screening prior to IVF, maternal age, and limited education about PGT-A due to the complexity about education for IVF alone.

Conclusion

There is a need to develop decision support tools for the increasing choices of genetic testing options for patients seeking IVF. Including patients’ values, past pregnancy experiences and attitudes toward science into the decision-making process may help promote a more informed decision.

     

Associations of semen quality with non-essential heavy metals in blood and seminal fluid: data from the Environment and Male Infertility (EMI) study in Lebanon

Background

Human exposure to environmental pollutants is widespread. It was suggested that exposure to non-essential heavy metals may adversely affect semen development in men.

Purpose

To evaluate associations between non-essential heavy metals in blood and seminal fluid and semen quality parameters in men.

Methods

Male partners of heterosexual couples were included. The following elements were measured in blood and seminal fluid: lead (Pb), cadmium (Cd), arsenic (As), barium (Ba), mercury (Hg), and uranium (U) using ion-coupled plasma-mass spectrometry.

Setting

The fertility clinic at the American University of Beirut Medical Center.

Main outcome measures

Semen quality parameters (volume, concentration, total count, progressive motility, viability, and normal morphology).

Results

We found that participants with low-quality semen had significantly higher Cd and Ba concentrations in the seminal fluid than participants with normal-quality semen. We also observed significant associations between low sperm viability and higher blood Cd and Ba, as well as higher seminal Pb, Cd, Ba, and U. Furthermore, U concentrations in the seminal fluid were associated with increased odds ratios for below-reference progressive sperm motility and normal morphology.

Conclusions

Environmental exposures to Pb, Cd, Ba, and U appear to adversely influence sperm development in men. In non-occupationally exposed men, measurements of heavy metals in the seminal fluid may be more predictive of below-reference sperm quality parameters than in blood.

     

Oligoamnios and Perinatal Outcome

Objective(s)

We aimed at evaluating the predictive value of amniotic fluid index ≤5 on perinatal outcome in terms of effect on cardiotocography, mode of delivery, meconium in liquor, birth weight, fetal distress, APGAR score at birth and neonatal admission to ICU.

Method(s)

This is a prospective study of 308 antenatal women admitted to labor ward of MIMS during February 2014–December 2015 with gestational ages between 34 and 41 weeks. All women enrolled were subjected to history taking, examination, AFI estimation and compared between those with AFI ≤5 from rest.

Results

The non-reactive CTG, cesarean section rate due to fetal distress, low birth weight, APGAR score <7 and NICU admission were significantly high among those with oligoamnios than the control group.

Conclusion

Oligoamnios has a significant correlation with adverse perinatal outcome.

     

Diagnosis of parental balanced reciprocal translocations by trophectoderm biopsy and comprehensive chromosomal screening

Purpose

This study investigates a case series of eight couples who underwent trophectoderm (TE) biopsy and comprehensive chromosomal screening (CCS) for routine aneuploidy screening and were found to have CCS results concerning for previously undetected parental balanced reciprocal translocations.

Methods

In each case, controlled ovarian hyperstimulation and in vitro fertilization (IVF) yielded multiple blastocysts that each underwent CCS with high-density oligonucleotide microarray comparative genomic hybridization (aCGH).

Results

Parental translocations were suspected based on the finding of identical break point mutations in multiple embryos from each couple. Confirmation of these suspected translocations within blastocysts was performed with next-generation sequencing (NGS). Subsequent parental karyotypic evaluation resulted in a diagnosis of parental balanced reciprocal translocation in each case.

Conclusions

We demonstrated that high-resolution aCGH and NGS on TE biopsies can accurately detect parental reciprocal translocations when previously unrecognized.

     

Single-Step First Trimester Screening “Sooner the Better”

Purpose

To evaluate the role of single-step universal screening in first trimester and its effectiveness.

Materials and methods

Three thousand women attending antenatal clinic of Pt JNM Medical College, Raipur, were screened with 75 gm OGTT in their first trimester irrespective of their last meal, and those who were screened negative were again subjected to OGTT at 24–28 weeks. The women were followed throughout pregnancy till delivery. Any maternal or perinatal complications were noted.

Result

Overall incidence of GDM was 5.2 %. About 61.54 % women screened positive in first trimester. At 24–28 weeks, 38.46 % women were diagnosed with GDM. Women diagnosed in first trimester showed significantly low incidence of cesarean section rate (20.83 %), PIH (2.08 %), and macrosomia (14.44 %), in comparison to women diagnosed later in pregnancy.

Conclusion

The role of first trimester screening was found effective in reducing adverse maternal and perinatal outcomes in GDM.

     

Screening for Postnatal Depression in a Tertiary Care Hospital

Aim

To determine the need to screen postpartum women for postpartum depression.

Objective

This study was designed to determine the prevalence of an Edinburgh postnatal depression scale (EPDS) score of ≥13 in postpartum mothers and to evaluate the association of different sociodemographic and obstetric factors with postpartum depression.

Design

Prospective cohort study.

Method

1600 postpartum women who delivered a live born at St. John’s Hospital were recruited into the study. Participants were screened for postnatal depression using the EPDS. A risk factor questionnaire that covered key sociodemographic and obstetric factors was also completed by all the subjects. Main Outcome Measure: Prevalence of a score of 13 or higher, on the EPDS.

Results

The prevalence of an EPDS score of ≥13 in our population was 7.5 % (120/1600). Participants with a family history of psychiatric illness, history of domestic abuse, delayed initiation of breastfeeding, and those who gave birth to a female infant were at a significantly higher risk for an EPDS score of 13 or higher, indicating probable postnatal depression. The mode of delivery, NICU admission of the newborn, and history of antenatal complications were not significant risk factors.

Conclusion

Since the prevalence of an EPDS score ≥13 (which is suggestive of PPD) was found in a significant proportion of women, screening for PPD is indicated in all postpartum women to identify and promptly treat these women. Identification of a clear correlation between certain risk factors and PPD will lead to a more prompt diagnosis of PPD.

     

Assisted reproductive technology treatments and quality of life: a longitudinal study among subfertile women and men

Purpose

Quality of life (QoL) may represent a comprehensive indicator for the assessment of the psychological impact of complex clinical conditions, such as infertility. Infertile women have a worse QoL compared to both infertile men and non-infertile controls. However, the initial phases of infertility treatments have been frequently investigated using cross-sectional study designs. This prospective longitudinal study aimed at assessing the health-related QoL change across different phases of assisted reproductive technology (ART) treatments in subfertile women and men.

Methods

Eighty-five subfertile women and men undergoing ART cycles were assessed at the beginning of the ovarian stimulation, during oocyte retrieval before discharging, and around 14 days after the embryo transfer. QoL was assessed through the Short Form 36.

Results

Irrespective of the cause of infertility, work status, and age, QoL levels decreased from the first to the third assessment, and women scored significantly lower than men to each QoL indicator. Additionally, a higher number of previous ART failures had a negative impact on QoL, irrespective of gender and the phase of treatment. ART outcome marginally affected women’s QoL across time.

Conclusion

Infertile women have a worse QoL throughout all phases of ARTs compared to men, and this difference increases in infertile patients with more than one previous ART failure.

     

Auscultation of the fetal heart in early pregnancy

Introduction

Auscultation of the fetal heart is a common event in antenatal care, in early pregnancy it may be associated with false negative results, which require ultrasound scan to confirm fetal viability.

Methods

We studied 197 women in early pregnancy to determine the gestational age at which the fetal heart can be reliably identified and the factors which determined the accuracy of the test.

Results

The proportion of successful auscultations increased with advancing gestation (p < 0.001). There was no effect of maternal body mass index or the level of midwifery experience.

Conclusion

For a sensitivity of 90%, the fetal heart should be auscultated after 13 week gestation. If a sensitivity of 80% is acceptable the fetal heart can be auscultated after 12 + 1 week gestation.

     

Conservative management of endometrial cancer: a survey amongst European clinicians

Objective

Antenatal corticosteroids before preterm births are considered to be most effective 48 h after and up to 1 week after the first dose. We aim to evaluate: (1) our practice of administration of antenatal corticosteroids in Singapore; (2) admission characteristics of women for discriminatory factors of spontaneous preterm delivery within 1 week.

Methods

This is a retrospective study in a tertiary obstetrics unit in Singapore. 3044 women who delivered live births (at term or preterm) from 1st November 2014 to 31st January 2015, who were at risk of spontaneous or induced preterm delivery, were included. Data related to the time of and indications for antenatal corticosteroids administration, characteristics assessed at the time of presentation, and time of delivery were collected and analysed.

Results

85.9% of women who delivered at gestational age ≤ 34⁺⁶ received at least one dose. 22.1% had delivered within the window of efficacy. Gestational age > 32 weeks at presentation, uterine activity on tocography and cervical dilation with effacement were associated with preterm delivery within 1 week of presentation.

Conclusion

Overall, our antenatal corticosteroids administration rate is comparable to that attained by centres in other developed countries. It is difficult but important to discriminate women who will benefit from this timely intervention.

     

Delayed childbearing and female ageing impair assisted reproductive technology outcome in survivors of male haematological cancers

Purpose

To analyse the impact of female characteristics on assisted reproductive technology outcome among male haematological cancer survivors.

Methods

A retrospective analysis of 93 haematological cancer survivors attending our tertiary referral fertility centre between June 1998 and June 2017 for achieving fatherhood with assisted reproductive technology treatments.

Results

A progressive increase in the median female age was observed during the study period (32.2 years until the year 2007 and 36.9 years from the year 2012). Fifty-five out of 93 patients were treated with intracytoplasmic sperm injection (ICSI) (113 ovarian stimulations, 108 ICSI procedures). Cryopreserved ejaculated sperm was used in 28 couples, fresh sperm in 19, and thawed testicular sperm in 8 couples. Mean female age at ovarian stimulation was 37.0 ± 4.7 years. Twenty-six pregnancies resulted in a full-term birth (23% per started ovarian stimulation; 43.6% per couple) and 33 children were born. No significant differences were observed according to source of sperm (fresh, frozen, testicular) and multivariate analysis confirmed that maternal age was the only variable inversely related to the cumulative delivery rate, being five times lower (15.7%) when the female partner was ≥?40 years (OR?=?0.22, 95% CI 0.06–0.77) vs. 58.3% with younger women (p?=?0.0037).

Conclusions

Delayed childbearing and female ageing affect ICSI outcome in couples where the male is a survivor of haematological cancer. This topic should be discussed when counselling male cancer patients about fertility preservation.

     

Intrauterine HPV transmission: a systematic review of the literature

Purpose

To evaluate the percentage of intrauterine vertical human papillomavirus (HPV) transmission among HPV-positive mothers and the relative risk of intrauterine vertical HPV transmission between cesarean and vaginal delivery among HPV-positive women.

Methods

This systematic review was made according to the PRISMA statement. We searched PubMed and Scopus and the final articles were selected by two reviewers. Data from the selected articles were plotted, and the pooled percentage of antenatal vertical HPV transmission among HPV-positive mothers as well as the pooled relative risk of antenatal vertical HPV transmission between cesarean and vaginal delivery among HPV-positive women were calculated.

Results

9 studies including 421 HPV-positive mothers and their offsprings were selected from 434 potential papers. Following meta-analysis, the pooled percentage of antenatal vertical HPV transmission was 4.936% (95% CI 1.651–9.849), with moderate heterogeneity between the studies (I²?=?72.22%). The pooled relative risk of antenatal vertical HPV transmission between cesarean and vaginal delivery among HPV-positive women was 0.912, with no statistical significance (95% CI 0.226–3.674) and homogeneity between the studies (I²?=?24.48%).

     

Antenatal ultrasound and MRI findings of Pena–Shokeir syndrome

Introduction

Pena–Shokeir syndrome is an autosomal recessive disorder characterized by arthrogryposis, facial anomalies (micrognathia), camptodactyly, polyhydramnios and lung hypoplasia.

Case report

We report prenatal ultrasonographic, antenatal MR and postnatal examination findings of a fetus with Pena–Shokeir syndrome.

Conclusion

Pena–Shokeir syndrome is a potentially lethal condition and most cases are diagnosed prenatally by ultrasound. Fetal MR can be performed to look associated neurological malformation.

     

Sperm retrieval and concomitant tumor resection in azoospermic men with congenital adrenal hyperplasia and bilateral testicular adrenal rest tumors: a case report

Purpose

The objective of this study was to offer a new treatment approach for sperm retrieval simultaneously with tumor resection in azoospermic men with congenital adrenal hyperplasia (CAH), orchialgia, and bilateral testicular adrenal rest tumors (TARTs) who fail to respond to medical treatment.

Methods

This is a retrospective chart review from a couple’s fertility center.

Results

Between May 2013 and May 2015, two azoospermic men with CAH and bilateral TARTs, with orchialgia, and desire to conceive underwent bilateral TART resection in the same surgical setting as sperm retrieval after remaining azoospermic with normalization of gonadotropins with treatment with human chorionic gonadotropin (hCG). Both men had adequate sperm retrieved for in vitro fertilization/intracytoplasmic sperm retrieval (IVF/ICSI) at the time of bilateral TART resections. They had complete TART resections with resolution of orchialgia. The wife of one patient had a successful pregnancy with use of retrieved sperm resulting in a live birth, and the sperm from the other man is cryopreserved for future use.

Conclusions

It is feasible to perform successful sperm retrieval simultaneously with TART resection in azoospermic men with CAH after medical treatments with persistent azoospermia, rather than subjecting these men to multiple invasive procedures.

     

Couples’ discontinuation of fertility treatments: a longitudinal study on demographic,biomedical, and psychosocial risk factors

Purpose

This study aims to explore the role of infertility-psychosocial variables on treatment discontinuation after controlling for demographic and biomedical variables in couples seeking reimbursed fertility treatment.

Methods

A prospective study was conducted in 139 couples seeking fertility treatment. Between February 2010 and March 2011, participants completed measures of anxiety (STAI-State), depression (BDI-II), infertility-stress (FPI), and infertility coping strategies (COMPI-CSS). Medical data related to diagnosis, treatment, and discontinuation were collected in December 2013. A multiple logistic regression was performed to identify the predictors of discontinuation.

Results

The discontinuation rate was 29.5%. Female education level, engagement in ART procedures, and female causation decreased the likelihood of treatment discontinuation, whereas female age and depression increased the likelihood of discontinuation. Female depression was the strongest predictor in this model. The model correctly identified 75.5% of cases.

Conclusions

Female age and female depression are associated with a higher likelihood of treatment discontinuation in couples seeking treatment. Reproductive health professionals should therefore inform couples about the link between the fertility treatment discontinuation and both female age and female depression. Couples in which female partners present clinically relevant depression should be referred to a mental health professional to prevent premature abandonment of fertility treatments and thus increase success rates.

     

Natürliche Fertilität und Kinderwunsch

Background

As a result of altered family planning behavior, pregnancies are nowadays often planned after a period of long-term contraception. They often occur in the final quarter of the fertile years of women during which the fertility is already severely reduced.

Objective and methods

The aim of this article is to present the relationship between natural fertility and fulfilling the desire to have children. With this in mind a literature search was carried out.

Results

By making an early start to family planning more than 90?% of couples ultimately succeed in having a live birth. The chances of becoming pregnant are determined by the age of the woman, the ovarian reserve, the number of previously unsuccessful monthly cycles and the quality of the ejaculate. Most spontaneous pregnancies occur after intercourse in the highly fertile period and within the first six cycles. After six cycles a subfertility of only 50?% of full fertility is present for every second couple. Above the age of 30 years subfertility must already be assumed for approximately 50?% of all couples; therefore, the timely determination of the ovarian reserve is important, e.g. by testing anti-mullerian hormone levels. Fertility awareness is an important method for perception and appreciation of the cycle and fertility by couples themselves.

Conclusion

Fertility awareness can be utilized not only for contraceptive use but also for optimizing individual chances for conception. In this context extended diagnostic options, such as early recognition of cycle disturbances can be included. Reproductive medicine can nowadays restore even severely limited perspectives for conception as a result of fertility disorders back to natural fertility levels; however, it cannot exceed these levels.

     

Evaluation of Spot Urinary Albumin–Creatinine Ratio as Screening Tool in Prediction of Pre-eclampsia in Early Pregnancy

Objective

The aim of this study was to establish whether a spot urinary albumin/creatinine ratio (ACR) measured between 20 and 28 weeks of gestation can predict subsequent pre-eclampsia in asymptomatic pregnant women.

Design

Prospective observational study.

Subjects

The patients included sixty-two women with singleton pregnancy, normal renal function and no evident proteinuria, attending antenatal clinics between 20 and 28 weeks of gestation in a tertiary care hospital.

Methods

The ACR was determined from midstream urine sample taken between 20 and 28 weeks of gestation. Estimation of albumin was done by immunoturbidimetric microalbumin method and creatinine by modified Jaffe’s method.

Results

Incidence of pre-eclampsia in the study group was 12.90%. The cut-off value for ACR was taken as 35.5 mg/mol. The mean ACR in normotensive group was 19.26 ± 7.99, and in pre-eclampsia group it was 51.95 ± 18.78. For pre-eclampsia, screening in early pregnancy, spot ACR cut-off ≥35.5 mg/mol has sensitivity of 87.5%, specificity of 96.30%, PPV of 77.78% and NPV of 98.11%.

Conclusions

Spot urinary ACR values are higher in asymptomatic women in early pregnancy, who developed pre-eclampsia later on. When measured early in the second trimester, an ACR ≥ 35.5 mg/mmol predicted pre-eclampsia well before the onset of clinical manifestations with high sensitivity and specificity. It can be used as a good screening tool for predicting pre-eclampsia in early pregnancy.

     

Preconception care: closing the gap in the continuum of care to accelerate improvements in maternal,newborn and child health

Introduction

Preconception care includes any intervention to optimize a woman’s health before pregnancy with the aim to improve maternal, newborn and child health (MNCH) outcomes. Preconception care bridges the gap in the continuum of care, and addresses pre-pregnancy health risks and health problems that could have negative maternal and fetal consequences. It therefore has potential to further reduce global maternal and child mortality and morbidity, especially in low-income countries where the highest burden of pregnancy-related deaths and disability occurs.

Methods

A systematic review and meta-analysis of the evidence was conducted to ascertain the possible impact of preconception care for adolescents, women and couples of reproductive age on MNCH outcomes. A comprehensive strategy was used to search electronic reference libraries, and both observational and clinical controlled trials were included. Cross-referencing and a separate search strategy for each preconception risk and intervention ensured wider study capture.

Results

Women who received preconception care in either a healthcare center or the community showed improved outcomes, such as smoking cessation; increased use of folic acid; breastfeeding; greater odds of obtaining antenatal care; and lower rates of neonatal mortality.

Conclusion

Preconception care is effective in improving pregnancy outcomes. Further studies are needed to evaluate consistency and magnitude of effect in different contexts; develop and assess new preconception interventions; and to establish guidelines for the provision of preconception care.