Regional Prenatal Diagnosis Service


Contact Information

To speak to a business clerk about a referral, booked appointment, changes to an appointment time or date, patient preparation for the appointment, or for directions, please phone 905-521-2649 or fax 905-521-4955.

For all other inquiries, or to speak to a nurse or genetic counselor, please phone 905-521-2100 ext. 78988

Regional Prenatal Diagnosis Service

Referral Instructions:
A doctor’s referral is required for the first visit to this clinic. Please fax your referral to 905-521-4955 and specify indication for referral and perceived urgency.

Information needed for all patients referred:

  • Antenatal records; ultrasound reports for this pregnancy
  • Prenatal bloodwork (blood group/antibody screen, CBC, MSS or other screening reports)
  • Reports from other specialists involved in this patient’s current care
  • Reports of abnormal findings in previous pregnancy or child (for example, ultrasound, autopsy, chromosome testing, or specialist consultations)
  • Other laboratory tests pertinent to the reason for referral

Types of patients seen:

  • Pregnant women who may be interested in amniocentesis or CVS
  • Women who will be 35 years of age or more at the EDC (32 if carrying twins)
  • Women (or partners) who have had a previous child with a chromosomal abnormality
  • Women (or partners) who are carriers of a known chromosomal disorder
  • Women who are carriers of X-linked disorders (eg. hemophilia, muscular dystrophy)
  • Couples who are carriers of a single gene disorder which can be detected prenatally
  • Women who are at high risk due to a positive maternal serum screen (MSS) or other prenatal screening
  • Women who are at high risk due to abnormal ultrasound findings

Pregnant women who are referred for anatomical ultrasound:

  • Previous pregnancy or child with a birth defect detectable by ultrasound
  • Close family history of a birth defect detectable by ultrasound
  • Risk factors for the current pregnancy
  • Prenatal screen positive for open spina bifida
  • Exposure in pregnancy (for example, anticonvulsant medication, maternal chicken pox)
  • Ultrasound abnormalities
  • Ultrasound “soft signs”

Mandate and Services provided:

The Prenatal Diagnosis Service (PND) receives referrals from Hamilton and a large surrounding region, which includes the major communities of Burlington, Guelph, Kitchener-Waterloo, Cambridge, Brantford, Welland, Niagara Falls and St. Catherines. In this region, there are approximately 22,000 births annually. Pregnant women are referred to our service when they are at increased risk of fetal anomalies (for example, maternal age 35 or older), have an abnormal prenatal screening test, have exposure to potentially harmful drug, infection or toxin, or have had an ultrasound suggesting a fetal abnormality.

A number of women are seen prior to pregnancy for investigation and counseling before embarking on a pregnancy. The region served by the PNDS has a rich diversity of ethnicity, culture, and genetic risks. The service also provides an excellent setting in which advanced health care training and research are conducted.

Location: McMaster University Medical Centre
The Regional Prenatal Diagnosis Service is situated in the 4B clinic. Patients are seen here for consultation and genetic counseling. The 4B clinic is located in the red area on the fourth floor, at the back of ward 4B.

Detailed ultrasounds for the Prenatal Diagnosis consultation are done in Diagnostic Imaging, Ultrasound unit, which is located on the second floor, at the yellow elevators.

Prenatal diagnosis procedures (amniocentesis and CVS) are done in the Antenatal Diagnostic Unit (ADU), which is located in the 4Fclinic on the fourth floor at the red elevators.

Hours of Operation:
Monday to Friday, 8 a.m. to 4 p.m.

Regional Prenatal Diagnosis Service Team:
Patient care is provided by a team of people who work together, including physicians in Obstetrics (Maternal Fetal Medicine) and Genetics, as well as Genetic Counselors and Nurses. A staff of business clerks who coordinate all patient appointments and records supports the team.

Physician Staff (Genetics)
Malgorzata (Margaret) Nowaczyk
Aneal Khan

Physician Staff (Obstetrics)
Patrick Mohide
Henry Muggah
Barb Brennan
Trish Smith
Bryon DeFrance
Stephanie Winsor
Val Mueller

Counseling Staff
Marlene Huggins
Sarah Ruddle
Gwen White

Business Clerks
June Ciampichini
Valerie Doyle
Sharon Kennedy
Cheryl McQueen

During an initial visit to the Prenatal Diagnosis Clinic, patients will:

  • Complete a review of the family history and medical history. This may include a questionnaire completed by the patient upon arrival at the clinic
  • Learn about diagnostic testing options: amniocentesis and chorionic villus sampling. This may include watching a short video
  • Learn about prenatal screening options: nuchal translucency ultrasound, first trimester screening, maternal serum screening, and integrated prenatal screening. This may include participating in a group teaching session
  • Learn about the benefits and limitations of ultrasound in pregnancy, and review results of any ultrasound done as part of the consultation
  • Discuss whether specific tests, such as genetic screening tests, are appropriate, depending on the patient’s situation that led to the referral
  • If a patient chooses to have any testing or screening of her pregnancy, arrangements can be made at the end of the clinic visit

Additional Contact Information:
Women (or partners) with a family history of a genetic disorder or birth defect may benefit from genetic counseling to assess the risk factors for childbearing

  • If pregnant, please call Marlene Huggins at 905-521-2100, ext. 75429
  • If non-pregnant, please call the Genetics clinic at 905-521-5085