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Expanded carrier screening
Expanded carrier screening is a blood test that looks at many genes at once to see whether someone carries a silent genetic change that could cause disease in a baby if both parents (or the mother, for some X‑linked conditions) are carriers. It focuses mainly on autosomal recessive and X‑linked recessive conditions, which often have serious health consequences for affected children. What is expanded carrier screening? For autosomal recessive conditions, the test looks at


PCR for CMV, toxoplasmosis, others
Amniocentesis can help check if a baby has caught certain infections in the womb, especially cytomegalovirus (CMV) and toxoplasmosis, which can sometimes affect the baby’s brain, eyes, hearing, or overall development. How common? CMV is one of the most common infections in pregnancy; about 1% of pregnant women experience a first-time CMV infection, and a proportion of these infections are passed to the baby. Toxoplasmosis in pregnancy is less common, with new infection in a


Choline supplementation during pregnancy - what is the evidence?
Association between lower maternal choline levels and adverse pregnancy outcomes Observational data indicates that higher maternal choline levels are associated with reduced risk of adverse pregnancy outcomes, including neural tube defects, but causality is not fully established and further research is needed. However maternal choline level can only be measured under research settings, and not at the clinics. Based on such findings, major nutrition guidelines from the Unite


Saline infusion ultrasound scan of pelvis
What is a Saline Infused Ultrasound scan? Saline Infused Ultrasound scan — also known as saline infusion Sono-hysterography or saline infused sonogram —is a specialized gynaecological ultrasound procedure in which sterile saline (salt water) is injected into the uterine cavity via a thin catheter inserted through the cervix, while a transvaginal ultrasound is performed to visualize the inside of the uterus. Purpose and Procedure: The saline gently distends (expands) t


CMV maternal infection in first trimester
For CMV, the use of high dose valaciclovir early on in pregnancy to those who have been infected with CMV in the first trimester has been shown to reduce the risk of transmission of CMV to the fetus (see https://pubmed.ncbi.nlm.nih.gov/37473793/ ). We do a step-wise screening for CMV infection in the first trimester: We start off with CMV IgM at about 12 weeks. If positive, we check for CMV IgG. If CMV IgG is positive, we check for CMV IgG avidity. If CMV IgG avidity is low,


Numbness and / or tingling in hands and fingers
Carpal tunnel syndrome is a condition that causes numbness, tingling, and sometimes pain in the hand and fingers. It happens when a nerve called the median nerve is squeezed as it passes through the wrist. During pregnancy, changes in hormones and extra fluid in the body can make this nerve more likely to be compressed, especially in the third trimester. Symptoms often include tingling or numbness in the thumb, index, middle, and part of the ring finger. These feelings may b


How to stop breastfeeding?
Methods to stop breastfeeding typically involve gradual weaning combined with physical and supportive measures: Abrupt cessation - this is generally not advised due to pain risk and milk engorgement but may be necessary in some situations with appropriate management to avoid complications. Gradual reduction of breastfeeding sessions over days to weeks is recommended to allow the body to adjust and reduce milk production slowly, minimizing discomfort and risk of engorgement or


Breast awareness during pregnancy
Importance of Breast Examinations Regular breast examinations are important to perform before, during, and after pregnancy. Monthly...


Toxoplasmosis infection during pregnancy
What Is Toxoplasmosis? Toxoplasmosis is an infection caused by a parasite called Toxoplasma gondii. While it often causes no symptoms or...


The Importance of First Trimester Screening for Maternal CMV Infection
If a woman is infected with cytomegalovirus (CMV) for the first time from about two months before pregnancy up to the first three months...


Gestational diabetes mellitus
This is a pregnancy-induced condition that is characterized by high blood sugar level. This is usually diagnosed from an oral glucose...


Vaccination in third trimester
Maternal Respiratory Syncytial Virus (RSV) vaccination RSV is a major cause of respiratory infections among young infants. It can spread...


Vaccination in pregnancy
1. Influenza (Flu) vaccine Benefits: Flu is more likely to cause severe illness (including lung infection) in pregnant women...


Routine tests in first trimester
1. Blood and urine tests usually at 10-12 weeks – we require various blood samples and 1 urine sample to perform these tests: a) Full...


General advice in first trimester
Dietary 1. To avoid toxoplasmosis, avoid: a) eating undercooked contaminated meat (especially beef, pork, lamb, venison) or shellfish...


First Trimester Screening (FTS)
The FTS must be performed between 11+ weeks to 13 weeks 6 days gestation, best around 12 weeks. This is performed via: 1. History 2....


Non-Invasive Prenatal Test (NIPT)
One needs to understand the different types of chromosomal abnormalities to decide which tests to do. 1. Large chromosomal abnormalities...


Fetuses with increased NT (nuchal translucency)
The majority of fetuses with increased nuchal translucency (NT) detected at the routine first trimester scan at 11-13 weeks gestation are...


Second Trimester Screening
Second Trimester Screening Scan or Fetal Anomaly Scan at 18-22 weeks This scan typically takes 30 minutes but may take longer if the baby...


Third Trimester Growth Scan (including 3D / 4D if the conditions are right)
This is usually done at 30 to 37 weeks. The following details are assessed at this scan: a) Measurements of head circumference,...
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