Birth Defects

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• QWhat are the dangers of drinking alcohol while pregnant?

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  A Dr. Coleen Boyle, PhD, MS , Public Health & General Preventive Medicine, answered on behalf of Centers for Disease Control and Prevention (CDC)

  We've all heard that a woman shouldn't drink while she's pregnant or if she's planning to get pregnant. Here's why and what you should know. 
  
  Drinking alcohol during pregnancy can cause a baby to be born with birth defects and have disabilities. These conditions, called fetal alcohol spectrum disorders, or FASDs, are among the top preventable birth defects and developmental disabilities. FASDs can cause problems in how a person grows, learns, looks, and acts. FASDs can also cause birth defects of the heart, brain, and other major organs. These problems last a lifetime.
  
  There is no known amount of alcohol that is safe to drink while pregnant. All drinks with alcohol can hurt an unborn baby. A 12-ounce can of beer has as much alcohol as a 5-ounce glass of wine or a 1-ounce shot of liquor.
  
  There is no safe time to drink during pregnancy. Alcohol can harm a baby at any time during pregnancy. It can cause problems in the early weeks of pregnancy, before a woman even knows she is pregnant.
  
  Too many women continue to drink during pregnancy. About 1 in 12 pregnant women in the United States reports alcohol use. And about 1 in 30 pregnant women in the United States reports binge drinking (having five or more drinks at one time)*.
  
  Fetal alcohol spectrum disorders are 100% preventable, if a woman does not drink alcohol while she is pregnant.
  
  *In these findings, binge drinking was defined as having five or more drinks at one time. More recently, the definition of binge drinking for women has been changed to four or more drinks at one time.
  
  
  The presence of the CDC logo and CDC content on this page should not be construed to imply endorsement by the US Government of any commercial products or services, or to replace the advice of a medical professional. The mark "CDC" is licensed under authority of the PHS.

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• QWhat is Chiari malformation (CM)?

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  A Riverside Center for Neurosciences answered

  Chiari malformations (CM) are structural defects in the cerebellum, the part of the brain that controls balance. Normally, the cerebellum and parts of the brain stem sit in an indented space at the lower end of the skull, above the foramen magnum (a funnel-like opening to the spinal canal). When part of the cerebellum is located below the foramen magnum, it is called a Chiari malformation.

  CM may develop when the bony space is smaller than normal, causing the cerebellum and brain stem to be pushed downward into the foramen magnum and the upper spinal canal. The resulting pressure on the cerebellum and brain stem may affect the functions controlled by these areas and block the flow of cerebrospinal fluid (CSF) - the clear liquid that surrounds and cushions the brain and spinal cord - to and from the brain.

  This answer is based on souorce information from the National Institute of Neurological Disorders and Stroke.

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• QWhat is neonatal abstinence syndrome?

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  A March of Dimes answered

  Neonatal abstinence syndrome (also called NAS) happens when a baby is exposed to drugs in the womb before birth. A baby can then go through drug withdrawal after birth. NAS most often is caused when a woman takes opioids during pregnancy. Opioids are painkillers (like codeine, hydrocodone, morphine and oxycodone) your provider may prescribe if you’ve been injured or had surgery. The street drug heroin is also an opioid.
  
  Babies with NAS are more likely than other babies to be born with low birthweight (less than 5 pounds, 8 ounces), have breathing and feeding problems and seizures. Learn more at: marchofdimes.org/nas
• QWhat is the prognosis for craniosynostosis?

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  A Riverside Center for Neurosciences answered

  The prognosis for craniosynostosis varies depending on whether single or multiple cranial sutures are involved, or other abnormalities are present. The prognosis is better for those with single suture involvement and no associated abnormalities.

  This answer is based on source information from the National Institute of Neurological Disorders and Stroke.

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• QWhat tests are used diagnose pectus excavatum?

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  A Dr. Lyall A. Gorenstein, MD , Thoracic Surgery (Cardiothoracic Vascular), answered on behalf of Columbia University Department of Surgery

  The following tests are used to diagnose pectus excavatum:

  • Visual examination of the chest

  • Ausculation—analysis of sounds of the heart and chest to detect the condition's effect on heart and lung function

  • Electrocardiogram (ECG)

  • Echocardiogram (a noninvasive test that takes a picture of the heart taken with sound waves)

  • Pulmonary function testing (patient breathes into a mouthpiece connected to an instrument that measures the amount of air breathed over a period of time)

  • Chest X-ray

  • CT-scan

  • Haller Index
• QCan cleft lips and cleft palates be prevented?

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  A Women's & Children's Hospital answered

  There isn't anything parents can do to prevent cleft lips and cleft palates in most cases. Doctors are unsure as to the exact causes of cleft lips and cleft palates. As with any pregnancy, it is important to avoid the use of tobacco, drugs, alcohol and any non-OBGYN-approved prescription, as they can trigger the genes that cause cleft lip and palate.

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• QHow is the Nuss procedure for pectus excavatum performed?

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  A Dr. Lyall A. Gorenstein, MD , Thoracic Surgery (Cardiothoracic Vascular), answered on behalf of Columbia University Department of Surgery

  The minimally invasive Nuss procedure for pectus excavatum is performed with general anesthesia, as well as placement of an epidural catheter for pain management after the operation. Performed using video-assisted thoracoscopic surgery or VATS, The Nuss procedure involves creation of a horizontal passage underneath the sternum through two small incisions in the side of the patient's chest. A separate, small incision enables the surgeon to view the inside of the chest with the thoracoscopic camera. A convex steel bar known as the Lorenz pectus bar is specially shaped to fit the patient's anatomy, inserted through the passage, and then turned to push the sternum outward. A metal plate and sutures secure the bar and prevent it from moving ("wandering") while the chest tissue re-forms. The bar must remain in place for a minimum of two years while the chest heals and re-forms to its new shape. The bar is removed as an outpatient procedure.

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• QWhat are some common types of craniofacial birth defects?

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  A UCLA Health answered

  Pediatrician and geneticist Katrina Dipple, M.D., Ph.D., co-director of the UCLA Craniofacial Clinic, says that common birth defects include craniosynostosis, a condition in which an infant’s sutures (soft spots) close too early and cause the head to become misshapen and prevent normal brain and skull growth, and hemifacial microsomia, a condition in which the tissues on one side of the face are underdeveloped, affecting primarily the ear, mouth and jaw areas. Craniofacial defects may also occur after birth.

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• QHow is Chiari malformation (CM) diagnosed?

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  A Riverside Center for Neurosciences answered

  Many people with Chiari malformations (CM) have no symptoms. Their malformations are usually discovered only during the course of diagnosis or treatment for another disorder. The doctor will perform a physical exam and check the person's memory, cognition, balance (a function controlled by the cerebellum), touch, reflexes, sensation, and motor skills (functions controlled by the spinal cord). The physician may also order one of the following diagnostic tests: 
  An X-ray uses electromagnetic energy to produce images of bones and certain tissues on film. An X-ray of the head and neck cannot reveal a CM but can identify bone abnormalities that are often associated with CM. This safe and painless procedure can be performed in a doctor's office and takes only a few minutes.
  Computed tomography (also called a CT scan) uses X-rays and a computer to produce two-dimensional pictures of bone and vascular irregularities, certain brain tumors and cysts, brain damage from head injury, and other disorders. Scanning takes about three to five minutes. This painless, noninvasive procedure is performed at an imaging center or hospital on an outpatient basis and can identify hydrocephalus and bone abnormalities associated with CM.
  Magnetic resonance imaging (MRI) is the imaging procedure most often used to diagnose a CM. Like CT, it is painless and noninvasive, and is performed at an imaging center or hospital. MRI uses radio waves and a powerful magnetic field to produce a detailed three-dimensional picture or a two-dimensional "slice" of body structures, including tissues, organs, bones, and nerves. Depending on the part(s) of the body to be scanned, an MRI scan can take up to an hour.
  This answer is based on source information from the National Institute of Neurological Disorders and Stroke.

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• QWhat is the recovery like after pectus excavatum repair?

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  A Dr. Lyall A. Gorenstein, MD , Thoracic Surgery (Cardiothoracic Vascular), answered on behalf of Columbia University Department of Surgery

  Recovery after pectus excavatum repair varies depending on the patient's age and the amount of chest depression. Most patients leave the hospital within 3 to 5 days and can return to school or work within two to three weeks. Patients must avoid vigorous exercise for the first month after surgery, and contact sports for three months after surgery.
  

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