The Quad Screen Test
The quad marker screen is a blood test done between 15 and 20 weeks (usually closer to 15 weeks), that will help to recognize the risk of the fetus having certain birth defects.
... read more »
Bloom Syndrome
Bloom Syndrome is a rare genetic disorder first recognized and described by Dr. David Bloom. Another name for Bloom Syndrome is Bloom-Torre-Machacek Syndrome.
... read more »
Joubert Syndrome
Joubert Syndrome is a condition caused by a malformation of the brain. The condition can be passed from parents to children. To be inherited, parents must possess multiple recessive mutated genes.
... read more »
Cyclopia: The One-Eyed Baby
Cyclopia is an extremely rare birth defect where the baby is born with one eye or two eyes on the forehead of the baby.
... read more »
Phocomelia - Shortened or Absent Arms or Legs
Phocomelia is a congenital disorder that presents with a reduction in length of the long bones of the legs and / or arms.
... read more »
Gastroschisis - A Hole in the Abdomen
When a baby presents with Gastroschisis, the intestines, stomach and sometimes part of the liver can be visible on the outside of the body.
... read more »
Craniophagus Parasiticus
There have been several famous cases of children being born attached at the head or other part of the body.
... read more »
Congenital Hypoplastic (Left Heart Syndrome)
Hypoplastic left heart syndrome is a congenital heart defect where the left side of the heart is underdeveloped. For the first 10 to 11 days after birth, the patent ductus arteriosus, this closes soon after birth.
... read more »
Tetralogy of Fallot
Tetralogy of Fallot is a combination of four heart defects that are present at birth. Symptoms of the condition include difficulty eating, failure to thrive, no weight gain or weight loss, sudden death or stroke.
... read more »
DiGeorge Syndrome
When a small section from the middle of Chromosome 22 is missing, DiGeorge Syndrome occurs. The disorder happens in one of 4,000 pregnancies. DiGeorge Syndrome was discovered in 1968 by Angelo DiGeorge.
... read more »
Congenital Duncan’s Disease
The official name of Duncan's Disease is X-linked lymphoproliferative disease. The condition is caused by a malformation of the X chromosome, which means both male and female children can be affected. Specifically, the SH2D1A gene does not exist.
... read more »
Congenital Dandy Walker Syndrome
Patients with Dandy Walker Syndrome are diagnosed with a malformation of the brain involving the cerebellum and the space around the cerebellum that is filled with fluid.
... read more »
Congenital Ehlers-Danlos Syndrome
Infants born with a hyper flexibility may be diagnosed with Ehlers-Danlos Syndrome. The condition is characterized by loose joints and loose connective tissue.
... read more »
Trisomy 13 - Patau Syndrome
Trisomy 13 syndrome is a disorder of human chromosomes which occurs in approximately 1 in 10,000 live born infants. Trisomy 13 is due to the presence of an extra #13 chromosome.
... read more »
Congenital Hypotonia - Low Muscle Tone
Children born with hypotonia have low muscle tone and lower than average strength. Most children are not born with hypotonia, but develop it as a result of some other disorder or disease.
... read more »
Albinism
Albinism is characterized by a lack of the pigment melanin in skin, hair and eyes. There are two main forms of albinism.
... read more »
Holoprosencephaly
Holoprosencephaly (HPE) is a structural anomaly of the brain in which there is failed or incomplete separation of the forebrain early in gestation.
... read more »
Congenital Hypertrichosis - Wolf Baby
The conditions manifest as hair growing all over the face and back of the body. This hair is not normal hair, but resembles more closely the fur on an animal's body.
... read more »
New Test for Trisomy 21 Less Invasive
The age at which women are choosing to start a family is getting older and older. With increased age comes a greater risk of Down Syndrome (Trisomy 21) at birth.
... read more »
Indeterminate Sex
When an infant is born with indeterminate sex, the genital organs are not visually male or female.
... read more »
Heartburn Medications Not Linked to Birth Defects
Heartburn is a common complication in pregnancy, but researchers say pregnant women should not worry about their effects on the unborn fetus.
... read more »
Harlequin-type Ichthyosis
Infants born with Harlequin-type Ichthyosis present with dry, scaly skin creating a diamond pattern on the body. Skin is much thicker than normal and does not bend so severe cracking occurs. When cracks forms, risk of infection increases. Some skin infections associated with Harlequin-type Ichthyosis can be fatal.
... read more »
Diaphragmatic Hernia
When an infant suffers from a diaphragmatic hernia, a space in the diaphragm allows organs to pass through and into the chest cavity.
... read more »
Anotia - Microtia - Fetal Malformation
If an infant is born with a missing ear, the condition is called anotia. If the ear is smaller than average or only a portion of the ear developed, it is called microtia.
... read more »
Anophthalmos / Microphthalmos
Infants born with orbital tissue missing from one or both eyes, they are diagnosed with Anophthalmos.
... read more »
Cleft Lip / Cleft Palate
The term cleft lip or cleft palate refers to a birth defect that affects the upper lip and/or the roof of the mouth, known as the palate. In mild cases, the birth defect does not affect eating and can easily be repaired with simple cosmetic surgery.
... read more »
Aniridia
Aniridia is a congenital eye disorder also referred to as iris
hypoplasia. At first glance, patients with aniridia appear to have no
iris (colored part of the eye), but a closer look reveals the root of
the iris.
... read more »
Aglossia
The ACOG reports
that there are more than 4,000 known birth defects, ranging from mild to
severe. Aglossia is one of these known birth defects and occurs when an
infant is born without a tongue or an undeveloped tongue.
... read more »
Barth Syndrome: Disease Characteristics and Growth Data
Barth Syndrome is a rare genetic disorder only associated with the X
chromosome. The condition affects growth and causes cardiomyopathy and
neutropenia. The study included males with an official diagnosis of
Barth Syndrome (BTHS).
... read more »
Embryonic Development May be Associated with Heart Defects
While animal studies do not always result in direct correlations with
human outcomes, researchers believe chicken heart development may hold
the key to a possible breakthrough in congenital heart defect
development.
... read more »
Multiple Births and The Risk of Congenital Anomalies
Over the last 30 years, the numbers of congenital anomalies have
doubled in multiple births, according to a research study published in BJOG. The study was completed by researchers from the University of Ulster.
... read more »
Study: Seminal Fluid May Influence Baby’s Health
A new study indicates the health of a man's seminal fluid is an indicator for ease of conception as well as life-long health of offspring.
... read more »
Do Asthma Drugs Increase Risk of Congenital Anomalies?
Researchers from the Boston University School of Public Health
report there is no increased risk of congenital anomalies in patients
taking asthma medications during pregnancy. The study was published in
the journal Pharmacotherapy.
... read more »
The Effect of Maternal Asthma on the Neonate
Researchers recently published a study in the journal BJOG
on the effect of maternal asthma on the neonate. The study addressed congenital
malformations, hospitalization risk and perinatal mortality.
... read more »
Walker Warburg Syndrome
WWS, also known as Walker Warburg Syndrome, is a genetic condition passed on to children of parents with two recessive genes. Both parents must have the recessive gene for children to be born with the condition.
... read more »
Smoking During Overweight Pregnancy May Cause Fetal Heart Damage
Being overweight during pregnancy significantly increases pregnancy complication risk. Smoking during pregnancy also increases pregnancy complication risk.
... read more »
Rare Birth Defects Associated with Over-the-Counter Decongestants
According to a new study published in the American Journal of Epidemiology, over-the-counter decongestants may be a cause for concern when used in the first trimester of pregnancy.
... read more »
Organochlorine Pollutants and Risk of Hypospadias
Hypospadias is a congenital medical condition where the urethra forms abnormally on the penis. Researchers believe the condition may be associated with chemicals that disrupt the endocrine system, specifically organochlorine pollutants, otherwise known as POP.
... read more »
Hypoplastic Left Heart Syndrome Surgery for Infants
HLHS, or Hypoplastic left heart syndrome, is a common form of congenital heart disease. The conditions present with an underdeveloped left ventricle that is unable to pump blood efficiently through the heart.
... read more »
Trisomy 18 - Edward Syndrome
Trisomy 18 syndrome is a disorder of human chromosomes which occurs in approximately 1 in 6,000 live-born infants. Trisomy 18 is due to the presence of an extra #18 chromosome.
... read more »
Omphalocele
Children born with Omphalocele have a type of hernia that allows the intestines, liver, and sometimes other organs to protrude through the belly button area of the stomach.
... read more »
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia (also known as CDH) is an abnormality that occurs before birth as a fetus is forming in the mother's uterus.
... read more »