Where Risk and Choice and Hope Converge, a Guiding Voice

By Jan Hoffman

The young couple, shy and flush with excitement about her first pregnancy, sit down with Daniela Iacoboni, a prenatal genetic counselor at North Central Bronx Hospital.

They are from Mexico and speak no English.

“Do you know why you’re here today?” Ms. Iacoboni asks in Spanish.

They do not.

“The results from your blood test showed positive for Down syndrome,” Ms. Iacoboni says.

No response.

“Mongolismo,” she says.

The couple smile nervously.

Ms. Iacoboni asks them whether they know about chromosomes.

They do not.

Ms. Iacoboni, 31 and a new mother herself, has a daunting task. The information and the choices she must explain form a slippery, spiraling staircase, with every step posing questions of risk, hope, heartbreak, conscience — made even more precipitous because this second-trimester blood test is prone to false alarms.

Most women she counsels will deliver healthy infants. “We have to scare a lot of women to find a few sick babies,” she later remarks.

It is Ms. Iacoboni’s responsibility to introduce these most optimistic of patients to the heaven and hell of knowledge, the breadth and limitation of genetic diagnoses, and their choices. Then she will be their liaison throughout the hospital to turn those choices into action.

But her job is made even more grueling because the women referred to her are overwhelmingly minority, poor and poorly educated. Their first languages might be Albanian, Bengali, Urdu, Korean or Wolof.

Even though medical advances have improved first-trimester screenings, many of these patients do not realize early on that they are pregnant, are in denial or have pressing life problems that prevent them from keeping appointments.

Some do not have partners. Earlier this morning, a 37-year-old patient who spoke only Mandingo sat with her head bowed, as her husband declared that because his other children were born healthy, there was no need to test this one. One patient is homeless; another became pregnant and HIV-positive after she was raped.

“And they’re sitting down with this white, privileged, upper-middle-class woman,” Ms. Iacoboni, who has a master’s degree in genetic counseling from Sarah Lawrence College, says later, “and they’re thinking, ‘What do you know?’ On some level, they’re right. That’s why I don’t use a conventional psycho-social approach: ‘So what’s going on in your life that’s influencing your ability to make a decision today?’ I don’t try to pretend that I really understand.”

She shows the Mexican couple a chromosome chart. The blood test is a “maybe,” she says, and because the woman is 27, chances are good that her baby will be fine.

The only way to know for certain before the baby is born, she continues, is to do an amniocentesis. “Es opcional,” she adds. “Es tu decisión.”

The doctor will use a needle to take a sample of the fluid surrounding the baby.

The couple grow pale and shift in their seats. No.

“I try not to be patronizing but to use the simplest language I can,” Ms. Iacoboni says later. “Numbers are very hard for most people. I try to let the patient guide me. I’ve had patients say, ‘Why did you tell me this?’ Our system is set up so that patients have a right to know everything we know. We can’t withhold that information.”

Ms. Iacoboni has worked at this hospital and at its sister institution, Jacobi Medical Center, for seven years. She counsels not just patients with positive second-trimester blood screens but older women, about chromosomal risk factors, and women with family histories of an inherited disease.

During her training, she did rotations around the city, including at an Upper East Side hospital. She prefers her patients in the Bronx.

“This patient population is challenging but appreciative,” she says later.

“That population?” she says, referring to her Manhattan rotation. “I’m that patient: high-maintenance, know-it-all, with the stack of Internet printouts. Now that’s a tough crowd.”

For the Mexican couple, Ms. Iacoboni lays out the consequences of learning more: that amniocentesis has a small risk — 1 in 500 — of miscarriage.

They begin shaking their heads.

Faced with a quandary, patients often ask Ms. Iacoboni what she would do.

“I say, ‘It’s not my place to tell you,’ ” Ms. Iacoboni says later. “ ‘And if I were you, I wouldn’t want me telling you to have a needle stuck in you that has any kind of a risk — and it’s also not my place to say you shouldn’t. Your religious beliefs, home support, financial situation are individual. The two worst things that could happen are, you could lose a healthy baby or you could learn you have a Down syndrome baby. You have to decide which risk is worse for you.’ ”

Ms. Iacoboni gently tells the couple that many problems diagnosed by an amniocentesis have no cures.

No, they say.

That when some women learn the results, they keep their pregnancies. Others do not.

“I’m not pro-anything,” Ms. Iacoboni says later. She has worked with patients who chose to keep pregnancies with severe fetal anomalies, for whom she helped arrange services throughout the hospital; and with those who terminated just before the 24-week legal deadline.

“For lots of patients it’s more traumatizing to go through with an abortion than to let nature take its course,” she says. “I just want to make sure that patients truly understand what they’re taking on, including the ones who choose to terminate, that they see the magnitude of their choices.”

The Mexican couple have shut down: No. No. No.

Do you have any questions? Ms. Iacoboni asks.

No.

While she leaves to check their next appointment, the couple sit in silence, not looking at each other, the woman, tears glistening, turning over Ms. Iacoboni’s card, the man restlessly perusing a brochure in Spanish about amniocentesis. Then they politely thank her, and walk out.

How much did they understand? Were they frightened by the needle? The remote possibility of miscarriage? The fear of having to think about abortion? Or did they just not want their dreams of a healthy baby punctured months before the due date?

Ms. Iacoboni has no clue. She had sensed their consistent resistance, so she moved on.

“‘Recommend’ should not be in a genetic counselor’s vocabulary,” she says.

Her own pregnancy, she says, affected her counseling. “That’s when I had the best rapport with patients,” she says later, with a fond smile. “They could relate to me on that level.”

Her belly grew. Then it became even more difficult, devastating actually, to discuss ambiguous test results and even conclusively awful ones with patients. “Talking about abortion while I was pregnant made me a better counselor,” she says. “I have much more empathy with patients than I did before.”

Ms. Iacoboni answers her phone, listens and covers her eyes with her hands.

She must tell a doctor that a patient’s baby has Trisomy 18, a chromosome disorder that will almost certainly be fatal shortly after birth.

She puts off the call for a few moments. She needs to take a break to pump breast milk. There are no photographs in her office of her astonishingly normal 3-month-old baby.

From The New York Times on the Web ©The New York Times Company. Reprinted with Permission.