Congenital bilateral absence of the vas deferens (CBAVD): do genetic disorders modify assisted reproductive technologies outcomes?
CONCLUSION: The analysis of the presence of 5T polymporphism in CBAVD patients may add information when predicting the outcome of assisted reproductive techniques. PMID: 31823853 [PubMed - in process]
ConclusionsOur results indicate that men with CUAVD mainly display oligozoospermia or normozoospermia and that they were previously fertile. They clearly confirm, first, thatCFTR testing is recommended in CUAVD men and it should be mandatory for those with normal kidneys; and, second, that TRUS is needed for the diagnosis of CUAVD. As CUAVD may be present whatever the sperm count, biological warnings are represented by semen volume and seminal epididymal markers, and clinical warnings by surgical histories of undescended testes or inguinal hernia.
Conclusions: There might be an effect of CFTR-modulators on fecundity and the course and outcome of pregnancy in CF-patients. More data are needed to support the safety or risk for infants of mothers treated with CFTR-modulators.
We present a special family couple with particular medical history of CF, who comes to our Clinic for genetic tests and a prenatal genetic counseling, to prevent the birth of a new affected CF child. Genetic analysis showed that the first affected child, a daughter, is compound heterozygous for two clinically significant recessive mutations: c.1521_1523delCTT; p.Phe508del, inherited from her mother, who carries the same CFTR mutation, and c.1853_1863delTTTTGCATGAA; p.IIe618Argfs 2, inherited from her father, who is heterozygous, healthy carrier, for the same CFTR mutation. In our case report, early prenatal genetic testing...
Women with cystic fibrosis (CF) are living longer and healthier lives, and opportunities for childbearing are increasingly promising. However, this population can also face sexual and reproductive health concerns, including menstrual irregularities, unplanned pregnancies, infertility and pregnancy complications. Additionally, more women are entering menopause and are at risk for the consequences of estrogen deficiency. The exact mechanisms involved in female reproductive health conditions in CF are not clearly understood, but are thought to include cystic fibrosis transmembrane regulator (CFTR)-mediated abnormalities, chan...
Klin Padiatr DOI: 10.1055/a-0973-8565 © Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents | Full text
To investigate how poor pre-gestational pulmonary function influenced pregnancy outcome and clinical status evolution in women with cystic fibrosis.
Conclusion: There are maternal and neonatal conditions that can affect heel prick test results, and therefore, their investigation is essential, aiming to guide measures that promote mother and child health and consolidate neonatal screening in this population.
PMID: 31240725 [PubMed - as supplied by publisher]
Abstract Objectives To assess the perinatal and maternal outcomes of pregnant women with cystic fibrosis (CF) and severe lung impairment. Methods This was a series of cases aiming to review the maternal and fetal outcomes in cases of singleton pregnant women with a diagnosis of CF. We have included all of the cases of singleton pregnancy in patients with CF who were followed-up at the obstetrics department of the Medical School of the Universidade de S ão Paulo, between 2003 and 2016. The exclusion criteria were the unattainability of the medical records of the patient, and delivery at other institutions. A forced e...