Fetal malformations occur rarely and over 50% are identified through ultrasound
Prader–Willi Syndrome
Prader-Willi syndrome is a syndrome characterized clinically by the following symptoms: hypotonia, hypogonadism, and extreme obesity. It was first described by Prader, Labhardt and Willi in 1956 on the basis of nine children with the tetrad of small stature, mental retardation, obesity and small hands and feet. ... read more »
Down Syndrome Ultrasound Markers
Over the last decade, new technology has improved the methods of detection of fetal abnormalities, including Down syndrome.
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Down Syndrome (Trisomy 21)
Down syndrome is a genetic disorder caused by a duplication chromosome.
Patients with Down syndrome have two copies of chromosome 21 so they are
born with 47 chromosomes as opposed to the normal 46.
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Recurrence Odds - Down Syndrome
What is the risk of having another Down Syndrome baby?
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Ambras Syndrome
Ambras syndrome, also known as hypertrichosis, is associated withexcessive hair growth. There are two types of Ambras syndrome 'congenital and acquired.
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Fetal Alcohol Syndrome
According to the CDC, each year between 1,300 and 8,000 babies in the United States are born with fetal alcohol syndrome (FAS). FAS is a combination of physical and
mental birth defects.
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Dwarfism
The most frequently diagnosed cause of short stature is achondroplasia, a genetic condition that results in disproportionately short arms and legs.
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Heterochromia and Pregnancy
Heterochromia is a genetic or acquired eye condition that affects the iris. There are three forms of the condition: complete, sectoral and central.
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Chorionic Villus Sampling and Maternal/Fetal DNA
Chorionic villus sampling (CVS) can be used to test for various chromosome disorders in pregnancy. Researchers from the University of Florence recently completed a study into the impact of CVS on maternal/fetal cell-free DNA levels.
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Congenital Heart Disease: Fast Facts
When it comes to better understanding a medical condition like congenital heart disease, often the basic fast facts are enough to give you the information you're looking for. Here are the basic fast facts of congenital heart disease.
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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.
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Hypoplastic Left Heart Syndrome (HLHS)
Hypoplastic left heart syndrome (HLHS) is a birth defect that affects normal blood flow through the heart.
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Marfan Syndrome And Pregnancy
Marfan syndrome (MFS) is a disorder of connective tissue affecting primarily the musculoskeletal system, the cardiovascular system and the eye. ... read more »
Anencephaly
Anencephaly is a neural tube defect that present with a lack of forebrain. This condition is a cephalic disorder.
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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.
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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.
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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.
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Anophthalmos / Microphthalmos
Infants born with orbital tissue missing from one or both eyes, they are diagnosed with Anophthalmos.
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Persistant cloaca
Female infants born with persistant cloaca have a fused common canal for the vagina, urethra and rectum.
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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.
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Congenital Heart Disease: Diagnosis and Treatment
If your infant or child is experiencing increased fatigue, blue tinting of the skin or other conditions indicative of decreased or altered blood flow, the pediatrician may suggest testing for a congenital heart defect.
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Congenital Heart Disease: Causes and Symptoms
Most obstetricians and heart specialists don't have an explanation exactly why congenital
heart disease occurs, though there are some common causes or risk
factors that may contribute to the likelihood of CHD.
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Club Foot
Club foot is a physical deformity that develops in-utero. About one
in 1,000 births are affected by the birth defect. Male children are
slightly more prone to the condition than female children.
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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.
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PKU – Phenylketonuria
Phenylketonuria or PKU is a genetic condition preventing the body
from breaking down the amino acid phenylalanine and two similar
substances commonly found in protein. PKU causes a build-up of the amino acid, which
can lead to developmental delay.
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Congenital Heart Disease: What Is It?
Congenital Heart Disease (CHD) is another name for a congenital heart defect. The word congenital refers to the fact that the patient is born with the condition.
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Hydrocephaly
Hydrocephaly is a condition that can present at birth or develop at any time in life when associated with injury or illness.
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The Bachelor’s Sarah Herron Born With One Arm
Sarah Herron, a contestant on the hit television show The Bachelor, was born with only one arm. A condition known as amniotic band syndrome is to blame for this.
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Spina Bifida
Spina bifida is a neural tube defect. The neural tube develops in the first weeks of pregnancy and closes by the end of the first month. Spina bifida develops when the neural tube does not close properly.
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Coarctation of the Aorta
A coarctation of the aorta is diagnosed when a portion of the aorta is narrowed making it difficult for blood to pass through the major artery. The aorta is responsible for moving blood out of the heart to the blood vessels.
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Living with Congenital Heart Disease
Some congenital heart disease conditions are mild enough to be left untreated without reducing lifespan or quality of life, though there are lifestyle changes and health care that must be taken into consideration. If the condition worsens, at any time, further medical treatment may be needed.
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What Is a Vestigial Tail?
All humans have a tail during embryological development, and usually, the tail disappears in the first trimester. If not, the baby is born with a vestigial tail.
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Neural Tube Defects
Neural tube defect is the term used to describe problems with the
development of the neural tube in the first few weeks of fetal
development. Conditions range from mild (spina bifida occulta) to severe
(anencephaly) and may cause death in-utero or after birth.
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Cleft Foot and Hand (Lobster Foot or Hand)
Cleft foot and hand is also known as a lobster foot and hand. Cleft foot and hand is also known as partial adactyly and is a rare inherited or congenital anomaly. In a cleft foot or hand a single cleft extends promixally into the foot/hand. It usually occurs in conjunction with clawing of the hand. Clefts are usually V-shaped.
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Cerebral Palsy
Cerebral palsy or 'CP' means weakness or lack of muscle control. CP is a group of different medical conditions which usually affect a person's ability to keep posture or maintain balance due to abnormal brain development leading to a person's ability to control her or his muscles.
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Fetus In Fetu Birth Defect
Fetus in fetu is an extremely rare malformation reported about 100 times in the literature. Fetus in fetu has been defined as the presence of one of the twins, a monozygotic twin, in the body, usually the abdomen, of the other twin.
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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.
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Congenital CHARGE Disorder
In 1979, Dr. BD Hall was the first to describe CHARGE disorder. The name CHARGE is an acronym for the effects of the disorder on the body.
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Achondroplasia and Pregnancy
Achondroplasia is a form of short-limbed dwarfism. The word
achondroplasia literally means "without cartilage formation." However,
the problem is not in forming cartilage but in converting it to bone (a
process called ossification).
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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.
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Congenital Hypospadias
Hypospadias is a birth defect in male infants that presents with a misplaced urethra. Typically the urethra is located in the middle of the tip of the glans penis.
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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.
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Brachydactyly
Brachydactyly is a condition which is associated with fingers or toes that are disproportionately short compared to the hand or the foot. The diagnosis is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E).
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