Updates in preimplantation genetic testing (PGT).

Preimplantation genetic testing (PGT) involves taking a biopsy of an early embryo created through in vitro fertilisation (IVF) or intracytoplasmic sperm injection (ICSI). Genetic testing is performed on the biopsy, in order to select which embryo to transfer. PGT began as an experimental procedure in the 1990s, but is now an integral part of assisted human reproduction (AHR). PGT allows for embryo selection which can reduce the risk of transmission of inherited disease and may reduce the chance of implantation failure and pregnancy loss. This is a rapidly evolving area, which raises important ethical issues. This review article aims to give a brief history of PGT, an overview of the current evidence in PGT along with highlighting exciting areas of research to advance this technology.

Folic acid fortification of flour to prevent neural tube defects in Europe - A position statement by the European Board and college of obstetrics and gynaecology (EBCOG).

Neural tube defects are disabling birth defects developing during the very early stages of conception. Children born with spina bifida face significant physical, psychological and social consequences. They may have bowel and urinary dysfunction, and no lower limb muscle control, resulting in lifelong wheelchair use. There is robust evidence that periconceptual folic acid supplementation prevents neural tube defects, when compared with no intervention. However, approximately 40% pregnancies in Europe are unplanned, and women may therefore not be taking prophylactic folic acid at the time of conception. There is evidence that low dose folic acid consumption via flour fortification provides further benefits in prevention of neural tube defects.

Valsartan exposure in pregnancy with resultant anhydramnios and chronic kidney disease in a late preterm infant.

In utero exposure to angiotensin II receptor blockers (ARBs) has fetotoxic effects including renal failure, oligohydramnios and lung hypoplasia. We present the case of a 24-year-old woman who presented to the maternity services in the 34th week of her first pregnancy. She was taking valsartan for hypertension. Ultrasound showed a structurally normal fetus with anhydramnios. The patient was admitted and valsartan was discontinued. She had spontaneous preterm delivery at 35 weeks' gestation of a baby girl. The baby's urine output was minimal in the first week of life and she was transferred to a paediatric hospital for specialist nephrology input. At 6 months of age, she requires ongoing nephrology follow-up and she remains on treatment for hypertension and anaemia. This case demonstrates the serious adverse effects resulting from ARB exposure in utero, and highlights the importance of avoiding fetotoxic medications in women of childbearing age.

Prediction of recurrent preterm delivery in asymptomatic women- an anxiety reducing measure?

OBJECTIVES: The QUiPP application is used to predict the risk of recurrent preterm birth (PTB) in asymptomatic high risk women with a previous PTB. Our study aims to evaluate the impact of the use of the QUiPP app on maternal anxiety levels. STUDY DESIGN: A retrospective cohort study on asymptomatic pregnant women attending the Prevention of Preterm Birth Clinic in a busy tertiary unit. Women included in the study had a history of previous PTB. The study assessment occurred at approximately 4 weeks prior to the gestation of the earliest previous PTB and included measurement of cervical length and vaginal fetal fibronectin. Data was inputted into the QUiPP application, which in turn estimated risk of preterm delivery at specific intervals. Measured outcomes were gestation at delivery, time from risk assessment to delivery, infant birth weight, NICU admission and length of stay. In addition, maternal anxiety levels were retrospectively assessed using a questionnaire with a Likert scale. RESULTS: Seventy six women were included in the study. All women were asymptomatic for preterm labour at assessment. The mean gestation at the time of risk assessment was 27 weeks, the mean time from risk assessment to delivery was 72 days. Average gestation at time of delivery was 37 weeks (range 22-42 weeks). The preterm birth rate was 29% (n = 22).Seventy seven percent of women who delivered <37 weeks, and 80% who delivered <34 weeks were given QUiPP scores predicting a ≥5% chance of PTB within four weeks of their actual delivery date. Sixteen percent of infants were admitted to NICU (n = 12) with a mean length of stay of 21 days. All infants went home well with their parents.Eighty four percent of respondents to our questionnaire reported feeling anxious about their pregnancy prior to attending the clinic. After receiving a QUIPP score 90% said they felt reassured and 79% reported that the felt less anxious. CONCLUSION: In asymptomatic women, the use of the QUiPP app helps to predict, prevent, and optimise PTB. This surveillance has a beneficial role for maternal mental well-being in that it reduces anxiety at a key time during a pregnancy.

Sister Mary Joseph nodule: an unusual site for endometrioid cancer metastasis.

Sister Mary Joseph (SMJ) nodules are rare malignant metastatic umbilical nodules, indicating disseminated disease and associated with a poor prognosis. This is the case of an 80-year-old woman who presented with umbilical discomfort and an ulcerated umbilical nodule. She was noted to have a bulky uterus and vaginal bleeding. CT abdomen-pelvis showed an enlarged uterus and right-sided lymphadenopathy, extending from the groin to the para-aortic area. Upper and lower endoscopies were normal. Biopsy of the umbilical nodule revealed metastatic endometrioid adenocarcinoma grade 1-2 with the endometrium and the ovary suggested as potential primary sites. The patient had cytoreductive surgery including en bloc resection of the umbilical tumour. Final histology confirmed Stage IVb endometrioid adenocarcinoma of the uterus. This unusual case highlights the diagnostic challenges faced with the presentation of an umbilical nodule. Gynaecological malignancy should always be considered within the initial differential diagnosis of an SMJ nodule.