Fetal & Neonatal Genetics

Most newborns are healthy from head to toe. Others will need extra attention and care. Prenatal planning and counseling can reassure you of a healthy pregnancy. It can also catch early signs that your baby may need specialized help, before or after birth. You can see us during pregnancy or if your child is born with a genetic condition.

Our team can assess risks and diagnose birth defects, genetic abnormalities or congenital conditions. We support and guide you, from evaluation through education, treatment and planning.

If your child does have genetic risks or conditions, we’ll be your advocates and partners. As you find a way forward, we’ll respect your desires and decisions for any type or level of care. We’re part of your child’s care team for as long as you need us.

During your first visit, we’ll get to know you, answer questions and hear your pregnancy concerns. You may choose routine screening tests to learn more. These noninvasive tests typically involve ultrasound and blood draws. Screening can:

• Show low or high risks of birth defects and genetic conditions without confirming a diagnosis
• Identify risks for a few common chromosomal disorders or genetic syndromes, such as Down syndrome (trisomy 21)
• Look for developmental delays, gestational diabetes, heart problems or other disorders

Diagnostic tests such as amniocentesis and fetal blood tests are more comprehensive. Some have risks, which your care team will discuss. Doctors may recommend diagnostic tests if:

• You’re 35 or older.
• You have a family history of birth defects or genetic conditions.
• Doctors suspect problems such as delayed or abnormal fetal development.

Different types of diagnostic tests can:

• Detect a wider range of genetic conditions and rare genetic syndromes
• Confirm diagnosis of risks, defects or diseases

During follow-up visits, we’ll discuss test findings. We offer caring, one-to-one education and support. Whatever your child’s diagnosis or needs, we’ll respect your family’s wishes and comfort level as you make personal decisions. We offer:

• Seamless consultation and care coordination  
• Newborn metabolic screening  
• Neonatal intensive care unit (NICU) support for critically ill babies and their families
• Custom, multispecialty care teams ranging from pediatric endocrinology and congenital and genetic dermatology experts to fetal cardiologists ready to provide timely care
• Referrals and resources for babies and families

Some genetic conditions cause many challenges at once. It can seem overwhelming — especially at first. Serious genetic disorders can include bone deformities, breathing problems and movement disorders. Babies may have a higher risk of conditions such as diabetes or heart disease later in life.

We understand and care deeply about helping children and families through troubling diagnoses. Whatever challenges you face, we’ll see you through the hills and valleys. Our caring social and spiritual care professionals are also here for you whenever they’re needed.

We guide care for these and many other diagnosed or suspected genetic conditions and complications:

• 22q11.2 deletion syndrome
• Congenital abdominal defects and gastrointestinal (GI) disorders
• Bone abnormalities and skeletal disorders such as:
  • Achondroplasia
  • Skeletal dysplasia 
  • Limb defects
  • Cleft lip and palate
  • Congenital heart disease
  • Congenital neurological disorders
  • Craniofacial (head and face) abnormalities
  • Down syndrome (trisomy 21)
  • Edwards syndrome (trisomy 18)
  • Heterotaxy syndrome (rare birth defect affecting chest, heart and other organs)
  • Developmental and growth abnormalities
  • Patau syndrome (trisomy 13)
  • Lysosomal storage diseases (LSDs)  
  • Phenylketonuria (PKU)
  • Type 2 diabetes
  • Other genetic or acquired conditions

At Phoenix Children’s, your child’s genetic counseling and medical care team includes fetal and neonatal care specialists and pediatric genetics and metabolism experts. Congenital heart disease experts, social service professionals and other specialists are also ready to help. We work together to meet the needs of mothers, babies and families.